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Symptoms » Clubbing » Glossary
 

Glossary for Clubbing

Medical terms related to Clubbing or mentioned in this section include:

  • 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 4p16.3 deletion: A rare genetic disorder where a portion of chromosome 4 is deleted at a location called 16.3. The condition is characterized by malformations in most parts of the body as the deletion affects growth and development of the fetus.
  • Aase-Smith I syndrome: A very rare hereditary syndrome characterized by deformities such as joint contractures, anemia, hydrocephalus and cleft palate.
  • Absent patellae -- scrotal hypoplasia -- renal anomalies -- facial dysmorphism -- mental retardation: A rare syndrome characterized by absent kneecaps, underdeveloped scrotum, kidney anomalies, unusual facial appearance and mental retardation.
  • Acetaminophen -- Teratogenic Agent: There is strong evidence to indicate that exposure to Acetaminophen during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Acro coxo mesomelic dysplasia: A rare inherited form of dwarfism characterized mainly by shortening of the middle and end parts of the limbs.
  • Acrofacial dysostosis Preis type: One of a group of disorders characterized by defective limb and facial development. The Preis type is very rare and the range and severity of symptoms is variable.
  • Acromesomelic dysplasia Brahimi Bacha type: A very rare genetic malformation syndrome characterized primarily by developmental abnormalities of the face and skeletal bones.
  • Adducted thumb syndrome recessive form: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
  • Adducted thumbs -- arthrogryposis, Christian type: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
  • Adducted thumbs Dundar type: A rare disorder characterized by a thumb abnormality as well as mental retardation, foot defects and other anomalies.
  • Alajouanine syndrome: A birth disorder characterized mainly by clubfoot, strabismus and facial paralysis. The facial paralysis is caused by damage to the 6th and 7th cranial nerve.
  • Alprazolam -- Teratogenic Agent: There is strong evidence to indicate that exposure to Alprazolam during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Aminopterin -- Teratogenic Agent: There is strong evidence to indicate that exposure to ? during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Amniotic Bands: A rare condition where abnormal fetal development occurs when bands of tissue encircle parts of the fetus and affect the growth of that portion. The band of tissue develops from the internal womb lining. The location of the band on the fetus determines the symptoms and the seriousness of the condition.
  • Amobarbital -- Teratogenic Agent: There is strong evidence to indicate that exposure to Amobarbital during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Amoxicillin -- Teratogenic Agent: There is strong evidence to indicate that exposure to Amoxicillin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • Amyotrophy, neurogenic scapuloperoneal, New England type: An inherited disorder involving muscle wasting and weakness in the shoulder and lower leg. The exact symptoms that occur may vary from patient to patient with males often being more affected than females. An interesting observation of this condition is that symptoms and rate of progression tends to be more severe with each passing generation.
  • Ankylosis -- facial anomalies -- pulmonary hypoplasia syndrome: A rare familial syndrome characterized mainly by fused or stiff joints, facial anomalies and underdeveloped lungs.
  • Annular constricting bands: Bands of amniotic tissue which can constrict parts of the body (especially the limbs) and result in deformity, swelling or even amputation of a body part. The severity and part of the body involved varies from case to case.
  • Arm symptoms: Symptoms affecting the arm
  • Arthrogryposis: A condition which is characterized by the persistent flexure of a joint
  • Arthrogryposis -- severe scoliosis: A rare disorder characterized by severe scoliosis and permanent flexion of muscles in the ends of the limbs. Other variable features may alsobe present.
  • Arthrogryposis multiplex congenita neurogenic type: A rare non-progressive syndrome characterized by congenital contractures that originates from a nerve problem (spinal motor neuron depletion).
  • Arthrogryposis multiplex congenita, distal, X-linked: A rare condition characterized by the presence of contractures at birth as well as various other anomalies. The condition is X-linked.
  • Arthrogryposis, congenital -- myopathic seizures: A rare syndrome characterized by mental retardation and muscle problems.
  • Arthrogryposis, distal, type 2E: A rare syndrome characterized by contractures of the fingers and jaw.
  • Asbestos conditions: Medical conditions caused be exposure to asbestos dust
  • Asbestosis: Lung condition from asbestos exposure
  • Aspergillosis: Infection with a fungus called Aspergillus.
  • Ataxia -- apraxia -- mental retardation, X-linked: A rare X-linked syndrome characterized mainly by ataxia, apraxia and mental retardation. The symptoms are generally nonprogressive.
  • Ataxia -- diabetes -- goiter -- gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Atelosteogenesis Type III: A very rare inherited skeletal ossification disorder. Unlike types I and II, survival past infancy is possible in type III.
  • Atelosteogenesis, type 2: A very rare inherited skeletal disorder involving the bone and cartilage and resulting in various bone abnormalities.
  • Aureomycin -- Teratogenic Agent: There is evidence to indicate that exposure to Aureomycin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Azathioprine -- Teratogenic Agent: There is strong evidence to indicate that exposure to Azathioprine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Bangstad syndrome: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Baraitser burn fixen syndrome: A rare syndrome characterized mainly by skeletal abnormalities, a skin disorder and an expressionless face.
  • Benadryl -- Teratogenic Agent: There is evidence to indicate that exposure to Benadryl during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Benzthiazide -- Teratogenic Agent: There is strong evidence to indicate that exposure to Benzthiazide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Berylliosis: Beryllium poisoning which causes granulomas and pulmonary fibrosis.
  • Biaxin -- Teratogenic Agent: There is evidence to indicate that exposure to Biaxin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Bilateral clubbing: Bilateral clubbing is a condition in which there is an abnormal thickening of the tissue under the fingernails and toenails that gives the fingers and toes a club shape.
  • Bindewald-Ulmer-Muller syndrome: A rare syndrome characterized mainly by a heart defect, and mental and growth retardation.
  • Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Brachycephaly -- deafness -- cataract -- mental retardation: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
  • Brachycephaly -- deafness -- cataract -- microstomia -- mental retardation: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
  • Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia: A rare syndrome characterized mainly by short digits, extra digits and a small or absent shin bone.
  • Bronchiectasis: Chronic bronchiole dilation from secretions and blockages.
  • Bronchiolitis Obliterans -- Ammonia inhalation: A lung disease caused by inhalation of Ammonia. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
  • Bronchiolitis Obliterans -- Chlorine inhalation: A lung disease caused by inhalation of Chlorine. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
  • Bronchiolitis Obliterans -- Diacetyl inhalation: A lung disease caused by inhalation of Diacetyl. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
  • Bronchiolitis Obliterans -- Hydrogen bromide inhalation: A lung disease caused by inhalation of Hydrogen bromide. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
  • Bronchiolitis Obliterans -- Hydrogen chloride inhalation: A lung disease caused by inhalation of Hydrogen chloride. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
  • Bronchiolitis Obliterans -- Hydrogen fluoride inhalation: A lung disease caused by inhalation of Hydrogen fluoride. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
  • Bronchiolitis Obliterans -- Hydrogen sulfide inhalation: A lung disease caused by inhalation of Hydrogen sulfide. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
  • Bronchiolitis Obliterans -- Methyl isocyanate inhalation: A lung disease caused by inhalation of Methyl isocyanate. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
  • Bronchiolitis Obliterans -- Nitrogen Oxide inhalation: A lung disease caused by inhalation of Nitrogen oxides. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
  • Bronchiolitis Obliterans -- Ozone inhalation: A lung disease caused by inhalation of ozone. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
  • Bronchiolitis Obliterans -- Phosgene inhalation: A lung disease caused by inhalation of Nitrogen oxides. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
  • Bronchiolitis Obliterans -- Polyamide-amine dyes inhalation: A lung disease caused by inhalation of Polyamide-amine dyes. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
  • Bronchiolitis Obliterans -- Sulphur dioxide inhalation: A lung disease caused by inhalation of Sulphur dioxide. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
  • Bronchiolitis Obliterans -- Thionyl chloride inhalation: A lung disease caused by inhalation of Thionyl chloride. The exposure can cause scarring of the lungs which can lead to obstruction of the small airways and ultimately impaired lung function. Chronic exposure can lead to gradual worsening of symptoms over a period of time. Acute exposure can result in lung damage that may be asymptomatic for a short period of time but can then lead to rapid death due to severe obstructive breathing problems. Severity of symptoms and outcome depend on degree of exposure.
  • Bronchiolitis obliterans organizing pneumonia: Inflammation of lung tissue (bronchioles and surrounding tissue) which may occur on its own or as a result of other conditions such as certain infections.
  • Bruck syndrome: A very rare syndrome characterized primarily by weak, brittle bones and abnormal knee, ankle and foot joints (congenital contractures) at birth. There are two different subtypes of the disorder, each with a different genetic defect origin.
  • Bruck syndrome, 2: A very rare syndrome characterized primarily by limited joint extension (congenital contractures), weak fragile bones and webbed skin at elbows and knees.
  • Brugsch's syndrome: A rare syndrome characterized by small hands and feet as well as thickened skin on the hands, feet, scalp and face.
  • Campomelia Cumming type: A rare syndrome characterized by limb and multiple abdominal organ abnormalities. The disorder results in death before birth or soon after.
  • Campomelic dwarfism: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
  • Campomelic dysplasia: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
  • Camptodactyly syndrome, Guadalajara type 1: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed fingers as well as other abnormalities such as short toes, short neck and a small head.
  • Carbamazepine -- Teratogenic Agent: There is strong evidence to indicate that exposure to Carbamazepine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Cardiac malformation: Any malformation or structural defect of the heart or it's structures. Some examples include atrioventricular septal defect, conotruncal malformations, transposition of great vessels and heart valve dysplasia. The symptoms vary in nature and severity depending on the type of malformation.
  • Caudal dysplasia sequence: A rare congenital disorder characterized by abnormal development of the lower spine during the fetal stage.
  • Celiac Disease: Digestive intolerance to gluten in the diet.
  • Cerebellar atrophy with progressive microcephaly: A very rare disorder characterized mainly by a small brain, small head, underdeveloped brain, brain degeneration, contractures, eye problems and seizures.
  • Cerebro oculo genital syndrome: A very rare syndrome characterized mainly by brain, eye and genital abnormalities.
  • Cerebrocostomandibular Syndrome: A rare genetic disorder characterized by a very small jaw, abnormal rib development and a small thorax as well as other abnormalities.
  • Cervical ribs, sprengel anomaly, anal atresia, urethral obstruction: A rare disorder characterized mainly by kidney and urinary system abnormalities, scoliosis and omphalocele. The features of the disorder are variable with male cases tending to be more severe than female cases. Only a few cases of this condition have been reported.
  • Charcot-Marie-Tooth disease, Type 4B2: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the CMT4B2 gene on chromosome 11.
  • Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. This type is characterized by the involvement of glaucoma which starts during childhood.
  • Charcot-Marie-Tooth disease, type 4: A rare group of demyelinating motor and sensory neuropathies consisting of a number of subtypes. The various subtypes are caused by different genetic defects.
  • Chemical poisoning -- Asbestos: Asbestos is a chemical used in a wide range of materials: heat and sound insulation, wall and ceiling panels, pipe insulation, floor tiles, toasters, cements, brake pads, roofing materials and furnaces. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chlorothiazide -- Teratogenic Agent: There is evidence to indicate that exposure to Chlorothiazide ( a diuretic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Chlorpromazine -- Teratogenic Agent: There is evidence to indicate that exposure to Chlorpromazine (a neuroleptic drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Chlortetracycline -- Teratogenic Agent: There is evidence to indicate that exposure to Chlortetracycline (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Chondrodysplasia, acromesomelic, with genital anomalies: A very rare condition characterized by severe limb malformations and genital anomalies. The reported case involved related parents.
  • Chromosome 1, monosomy 1p32: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, clubfoot an umbilical hernia.
  • Chromosome 1, trisomy 1q42 qter: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction, short stature, mental retardation and narrowing of the pulmonary arteries and valves.
  • Chromosome 10, trisomy 10p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
  • Chromosome 10p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
  • Chromosome 10p duplication/10q deletion syndrome: A rare chromosomal disorder where a section of the short arm (p) of chromosome 10 is duplicated and a section of the long arm (q) of chromosome 10 is deleted resulting in various abnormalities.
  • Chromosome 11q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 11 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
  • Chromosome 13 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 13 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 13, Partial Monosomy 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q deletion: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 14q, terminal duplication: A very rare syndrome caused by a duplication of a part of the material on chromosome 14 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation.
  • Chromosome 15, trisomy mosaicism: A rare chromosomal disorder where duplication of a portion of chromosome 15 causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction and hand abnormalities.
  • Chromosome 15q duplication mosaicism: A rare chromosomal disorder where duplication of a portion of chromosome 15 in some of the body's cells causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction and hand abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Chromosome 17, deletion 17q23 q24: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 18 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 18 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 18 deletion syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing.
  • Chromosome 18q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 18q- Syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms is determined by the amount of genetic material that is missing.
  • Chromosome 19 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 19 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 19p duplication syndrome: A rare chromosomal disorder where the short arm of chromosome 19 is duplicated resulting in various abnormalities.
  • Chromosome 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 21 monosomy: A rare chromosomal disorder where there is only one copy of chromosome 21 instead of the normal two leading to various abnormalities.
  • Chromosome 21q deletion syndrome: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 21 is missing. The symptoms or severity may vary somewhat between patients.
  • Chromosome 22 trisomy mosaic: A rare chromosomal disorder where three copies of chromosome 22 are present in some of the body's cells instead of the normal two. Severity of symptoms is determined by how many cells have the extra chromosomal material.
  • Chromosome 22, monosome mosaic: A very rare chromosomal disorder where one copy of chromosome 22 occurs in some of the body's cells and results in various anomalies. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 22, monosomy mosaic: A very rare chromosomal disorder where one copy of chromosome 22 occurs in some of the body's cells and results in various anomalies.
  • Chromosome 22, trisomy: A very rare disorder where there is an extra copy of chromosome 22 in all the body cells. The condition is usually fatal soon after birth or during the fetal stage.
  • Chromosome 3, trisomy 3p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two.
  • Chromosome 5, Trisomy 5p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 5p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 5q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 5 is deleted resulting in various abnormalities.
  • Chromosome 6, monosomy 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 6, partial trisomy 6q: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
  • Chromosome 6q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 7, trisomy 7p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 7p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 8p inverted duplication syndrome: A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of the duplication.
  • Chromosome 9 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities.
  • Chromosome 9, Trisomy 9p (Multiple Variants): A rare chromosomal disorder characterized by mental retardation, head and face malformations and various other abnormalities.
  • Chromosome 9, trisomy: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Chromosome diploid-triploid mosaicism syndrome: A rare chromosomal disorder involving chromosomal duplication, triplication and mosaicism.
  • Chronic bronchitis: A condition which is characterized by the chronic inflammation of ones or more of the bronchi
  • Chronic digestive diseases: Any disorder causing ongoing chronic digestive complaints.
  • Chronic liver disease: Any form of chronic liver disease
  • Ciclosporin -- Teratogenic Agent: There is evidence to indicate that exposure to Ciclosporin (an immunosuppressant drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Ciliary dyskinesia-bronchiectasis: A very rare disorder where the cilia fail to move. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. The lack of ciliary movement can cause a lung disease called bronchiectasis where a build up of mucus causes infections and airway damage. The airways then become enlarged. The condition can become progressively worse with time and can result in serious breathing problems.
  • Cirrhosis of liver: diffuse hepatic process characterized by fibrosis and the conversion of normal liver architecture into structurally abnormal nodules
  • Cirrhosis of the liver: Scarring of the liver from alcohol or other causes.
  • Clarithromycin -- Teratogenic Agent: There is evidence to indicate that exposure to Clarithromycin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Classical Potter syndrome: A term that describes the physical appearance that occurs when kidney disease results in a reduced volume of amniotic fluid. In the classical type, both kidneys are absent.
  • Clomiphene -- Teratogenic Agent: There is evidence to indicate that exposure to Clomiphene during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Clomocycline -- Teratogenic Agent: There is evidence to indicate that exposure to Clomocycline (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Clubbed fingers: The proliferation of the soft tissue around the ends of fingers
  • Clubbing: Rounded or club-like shape of fingers or foot
  • Clubbing in children: Clubbing in children is a deformity of a child's fingers and fingernails in which they are wider than normal and club-shaped.
  • Clubbing of fingers: Clubbing is a thickening of the flesh under the toenails and fingernails which is associated to a number of diseases
  • Clubbing of toes: clubbing of the toes is the thickening of the tissue underneath the toenails. The nail curves, downwards
  • Clubfoot: A deformity of the foot where there is a curled shape of the ankle, heels and toes.
  • Cocaine -- Teratogenic Agent: There is evidence to indicate that exposure to Cocaine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Common ventricle: A congenital heart defect where the wall separating the two heart ventricles is completely missing.
  • Complete Trisomy 18 syndrome: Complete Trisomy 18 syndrome is the most severe form of Edwards syndrome and involves an extra copy of chromosome 18 in all of the body cells. This severe form causes mental retardation and numerous physical defects that often cause death before birth or during infancy.
  • Congenital arteriovenous shunt: A rare birth defect involving the abnormal passage of blood between arteries and veins. The range and severity of symptoms is determined by the number, size and location of the arteries and veins involved.
  • Congenital cardiovascular malformations: The abnormal development of heart blood vessels. Specific examples of this condition includes hypoplastic left heart syndrome, coarctation and tricuspid atresia.
  • Congenital disorder of glycosylation type 1H: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ih is caused by a defect on chromosome 11pter-p15.5 and involves the gene for a particular enzyme (dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase).
  • Congenital heart defects: Heart defects that a baby is born with.
  • Congenital heart disease: Diseases of the heart that one is born with
  • Congenital myotonic dystrophy: A form of muscular dystrophy which is usually apparent at birth or within a few years. and affects the skeletal muscles, heart conduction, smooth muscle, eyes and the central nervous system. The range of severity varies from asymptomatic to fetal death.
  • Congestive heart failure: A condition which is characterized by breathlessness due to oedema and congestion of the lungs
  • Conotruncal heart malformations: A rare group of heart defect involving the outflow tracts. Examples include truncus arteriosus, transposition of great arteries and tetralogy of Fallot. Obviously the symptoms will be determined by which specific defect is involved.
  • Cortisone -- Teratogenic Agent: There is evidence to indicate that exposure to Cortisone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Cousin Walbrau Cegarra Syndrome:
  • Crane-Heise syndrome: A very rare fatal disorder characterized by numerous abnormalities.
  • Cranio osteoarthropathy: A very rare syndrome characterized by large fontanelles, joint problems and finger clubbing.
  • Craniofacial dysostosis -- arthrogryposis -- progeroid appearence: A very rare syndrome characterized usually caused by fetal exposure to the cytomegalovirus and resulting in features such as short stature, mental retardation, joint movement problems and facial anomalies.
  • Crixan -- Teratogenic Agent: There is evidence to indicate that exposure to Crixan (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Crohn's disease: Crohn's disease causes inflammation of the digestive system. It is one of a group of diseases called inflammatory bowel disease. The disease can affect any area from the mouth to the anus. It often affects the lower part of the small intestine called the ileum.
  • Cushing's symphalangism: A rare syndrome characterized by deafness and the fusion of joints in the middle of fingers and toes as well as fusion of hand and foot bones.
  • Cyanosis: Blueness or purple coloring of skin.
  • Cyclosporin -- Teratogenic Agent: There is evidence to indicate that exposure to Cyclosporin (an immunosuppressant drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Cyclosporine -- Teratogenic Agent: There is evidence to indicate that exposure to Cyclosporine (an immunosuppressant drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Cyclothiazide -- Teratogenic Agent: There is evidence to indicate that exposure to Cyclothiazide (a diuretic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Cystic Fibrosis: Cystic fibrosis is a hereditary disease affecting the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure.
  • De Grouchy Syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Deal-Barratt-Dillon syndrome: A very rare syndrome characterized mainly by scaly skin, jaundice, diarrhea and Fanconi syndrome (bone marrow fails to make sufficient new blood cells).
  • Declomycin -- Teratogenic Agent: There is evidence to indicate that exposure to Declomycin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Declostatin -- Teratogenic Agent: There is evidence to indicate that exposure to Declostatin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Del (2) (q33-q36): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (2) (q34-q36): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (3) (p14.2-p12): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (3) (pter-p25.23): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (3) (q12-q23): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (3) (q13.12-q21.3): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Del(1) (23-q25): A very rare chromosomal disorder where a portion of the long arm (23q-q25) of chromosome one is missing.
  • Del(1) (q12-q21.3): A very rare chromosomal disorder where a portion of the long arm (q12-q21.3) of chromosome one is missing.
  • Del(1) (q24-q25.3): A very rare chromosomal disorder where a portion of the long arm (q24-q25.3) of chromosome one is missing. The type and severity of symptoms is variable.
  • Deletion 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Deletion 18q: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Deletion 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Demeclocycline -- Teratogenic Agent: There is evidence to indicate that exposure to Demeclocycline (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Desbuquois dysplasia: A rare condition characterized by short-limbed dwarfism, characteristic facial features and skeletal abnormalities.
  • Dextrocardia-bronchiectasis-sinusitis: A genetic disorder characterized by sinusitis, bronchiectasis and situs inversus.
  • Diaphanospondylodysostosis: A rare disorder characterized by bone formation anomalies including a lack of bone formation in the spine during the fetal stage as well as kidney problems.
  • Diastrophic dysplasia: A rare genetic disorder characterized by short stature as well as skeletal, spine and ear abnormalities.
  • Digestive symptoms: Any symptoms affecting the digestive tract.
  • Dimedrol -- Teratogenic Agent: There is evidence to indicate that exposure to Dimedrol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Diphenhydramine -- Teratogenic Agent: There is evidence to indicate that exposure to Diphenhydramine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Distal arthrogryposis syndrome: A rare genetic disorder characterized by congenital contractures and other physical defects.
  • Distal arthrogryposis, Moore-Weaver type: A rare disorder characterized mainly by clenched fists, permanent flexion of toes and fingers and head and facial abnormalities.
  • Distal trisomy 6q: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
  • Distinctive Craniofacial Features -- Pterygia -- Mental Retardation: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
  • Disulfiram -- Teratogenic Agent: There is evidence to indicate that exposure to Disulfiram during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Diuril -- Teratogenic Agent: There is evidence to indicate that exposure to Diuril ( a diuretic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Double outlet right ventricle: A very rare birth defect where the aorta and the pulmonary artery both exit from the right ventricle and thus blood is unable to be pumped to the lungs. However, a hole connects the two ventricles and ultimately allows some blood flow to the lungs. The severity of symptoms varies depending on the location of the connecting hole in the heart and the exact location of the two arteries with respect to the heart.
  • Doxycycline -- Teratogenic Agent: There is evidence to indicate that exposure to Doxycycline during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Duane-radial ray syndrome: A very rare inherited disorder characterized by impaired control of eye movement and bone abnormalities in the hands and feet.
  • Ductus arteriosus, patent reversed flow: A rare birth defect. During the fetal stage, a connecting tube (ductus arteriosus) joins the pulmonary artery and aorta and hence prevents blood from flowing past the fluid filled lungs. After birth, the tube normally closes off so that the blood can be sent to the lungs to be oxygenated. Patent ductus arteriosus is where the connecting tube fails to close and hence the blood can't be oxygenated properly. In the patent reversed flow form of the condition, blood flow is reversed between the pulmonary and aorta opening and results in a reduced pulmonary flow.
  • Duodenal atresia tetralogy of Fallot: A rare birth defect characterized by a heart defect and an intestinal malformation where the duodenum is absent or closed off which prevents digested material passing through.
  • Dup (1) (q21.2-qter) and dup (14)(pter-q13): A very rare chromosomal disorder where a portion of the long arm (q21.2-qter) of chromosome one and the long arm of chromosome 14 (pter-q13) is duplicated. In the reported case, the fetus was aborted.
  • Dup (1)(pter-p31) and del(2)(q33-qter): A very rare chromosomal disorder where a portion of the short arm (pter-p31) of chromosome one is duplicated and a portion of the long arm (q33-qter) of chromosome 2 is deleted. The reported patient died at 3 months of age.
  • Dup (2) (q21-q31): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (2) (q33-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (2) (q33.1-q35): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (2) (q34-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (3) (p22-p14): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (3) (pter-p23): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in fifteen reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (3) (pter-p25) and del (18) (q21-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (3) (q25-q28): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (3) (q25-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in a few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup(1) (p31-p21): A very rare chromosomal disorder where a portion of the short arm (p31-p21) of chromosome one is duplicated. The type and severity of symptoms is variable.
  • Duplication 10p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
  • Duplication 18: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than the more common Down syndrome. Duplication 18 syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
  • Duplication 5p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Duplication 6q, partial: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
  • Duplication 7p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Dysplastic cortical hyperostosis: A very rare syndrome characterized mainly by abnormal bone and brain development.
  • Ebstein's anomaly: A heart defect where the tricuspid valve is malformed
  • Ecstacy -- Teratogenic Agent: There is evidence to indicate that exposure to Ecstacy during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Ectodermal dysplasia -- arthrogryposis -- diabetes mellitus: A rare syndrome characterized by diabetes, short stature and tooth, hair and nail abnormalities.
  • Edward Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than the more common Down syndrome. Duplication 18 syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
  • Edwards Syndrome: A rare inherited genetic disorder where a portion of chromosome 18 is duplicated. Most affected individuals die during the fetal stage and surviving infants have serious defects and tend to live for only a short while.
  • Ehlers Danlos syndrome type 4, autosomal dominant: A rare genetic connective tissue disorder characterized by delicate skin, fragile blood vessels, distinctive facial features and minimal joint problems - previously known as EDS type 4.
  • Ehlers danlos syndrome: An inherited disorder of the connective tissue causing it to become weak and fragile. Connective tissue is found in skin, muscles, tendons and ligaments and hence all of these may be affected by weakness
  • Ehlers-Danlos syndrome type 4: A rare genetic connective tissue disorder characterized by small joint hypermobility, easy bruising and characteristic facial appearance - a vascular or ecchymotic form of the condition.
  • Ehlers-Danlos syndrome type IV: A rare genetic connective tissue disorder characterized by small joint hypermobility, easy bruising and characteristic facial appearance - a vascular or ecchymotic form of the condition.
  • Ehlers-Danlos syndrome, vascular type: A rare genetic connective tissue disorder characterized by delicate skin, fragile blood vessels, distinctive facial features and minimal joint problems - previously known as EDS type 4.
  • Eisenmenger Syndrome: Increased lung blood pressure that can result from conditions such as a hole in the wall between the two heart chambers.
  • Emanuel syndrome: A rare chromosomal disorder where a portion of chromosome 11 is translocated with a portion of chromosome 22. The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure to thrive.
  • Emphysema: Emphysema is a type of chronic obstructive pulmonary disease (COPD). It is defined as an abnormal, permanent enlargement of the air spaces distal to the terminal bronchioles accompanied by destruction of their walls and without obvious fibrosis.
  • Empyema:
  • Endocarditis: Inflammatory alterations of the endocardium of ones heart
  • Ephedrine -- Teratogenic Agent: There is evidence to indicate that exposure to Ephedrine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Epiphyseal dysplasia, multiple, 4: An inherited bone and cartilage disorder which is usually mild enough to go undiagnosed.
  • Ergotamine -- Teratogenic Agent: There is evidence to indicate that exposure to Ergotamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Erythromycin -- Teratogenic Agent: There is evidence to indicate that exposure to Erythromycin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Esophageal Atresia, Coloboma, Clubfoot: A rare condition characterized by the association of eye coloboma, clubfoot and atresia of the esophagus.
  • Eye defects -- arachnodactyly -- cardiopathy: A rare syndrome characterized mainly by eye defects, long, thin fingers and heart disease.
  • Faciocardiomelic dysplasia, lethal: A very rare lethal syndrome characterized by facial, heart and skeletal abnormalities.
  • Fallot syndrome: A congenital heart disorder consisting of four heart defects - hole between the ventricles (ventricular septal defect), obstruction from right ventricles to the lungs (subpulmonary stenosis), overriding aorta and thickened right ventricle muscle.
  • Familial emphysema: A rare genetic form of emphysema caused by a deficiency of alpha-1 antitrypsin (AAT) which results in destruction of the elastin component of the lung structure. The disorder tends to run in families (familial).
  • Familial interstitial fibrosis: A rare familial disorder involving fibrosis and scarring of the lung tissue which causes the lung to become stiff and unable to function normally.
  • Familial pulmonary arterial hypertension: Familial pulmonary arterial hypertension refers to high blood pressure in the arteries that carry blood to the lungs. Blood pressure in other parts of the body is normal or sometimes even low. The condition occurs in a familial pattern i.e. tends to run in families.
  • Fanconi-ichthyosis-dysmorphism: A very rare syndrome characterized by scaly skin (ichthyosis), anemia, muscle anomalies and various other abnormalities. All six reported cases died within 6 months.
  • Femoral Hypoplasia-Unusual Facies Syndrome: A condition which is characterized by femoral hypoplasia and abnormal facies
  • Femoral facial syndrome: A rare genetic disorder characterized by underdeveloped femur, short nose and cleft palate.
  • Femur-fibula-ulna syndrome: A very rare syndrome characterized mainly by abnormalities of the thigh, forearm and calf bone. The degree of abnormality and number of limbs involved is variable. The upper limbs are affected more than the lower limbs and the right side is affected more than the left side.
  • Fenfluramine -- Teratogenic Agent: There is evidence to indicate that exposure to Fenfluramine (a weight loss drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Fetal aminopterin syndrome: A rare disorder which produces multiple abnormalities and results from a failed abortion attempt using the drugs aminopterin and methotrexate.
  • Fibrosing alveolitis: A condition characterized by abnormalities in the fibrous tissues between lung alveoli which results in inflammation.
  • Fibular hypoplasia or aplasia -- femoral bowing -- oligodactyly: A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone).
  • Fine-Lubinsky syndrome: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
  • Finger clubbing: Swelling of the tissue beneath the fingernails, generally due to a chronic disease process elsewhere in the body
  • Finger symptoms: Symptoms affecting any fingers
  • Fischer Syndrome: A rare condition characterized by unusual facial appearance, thickened skin on palms and soles, physical and mental delay and various other anomalies.
  • Foot symptoms: Symptoms affecting one or both feet
  • Frank-Ter Haar syndrome: A rare genetic bone disorder characterized by skeletal abnormalities, enlarged corneas and characteristic facial abnormalities.
  • Freeman-Sheldon Syndrome: A very rare genetic disorder characterized by abnormal development of the skeleton and muscles.
  • Fried-Goldberg-Mundel syndrome: A rare syndrome characterized mainly by leg malformations and an abnormally positioned urethral opening (hypospadias) in males.
  • Friedreich's ataxia: Progressive muscle weakness from nerve damage.
  • Froster-Iskenius-Waterson syndrome: A rare syndrome characterized by multiple joint contractures at birth, hyperthermia and twisting of neck muscles.
  • Fryns-Fabry-Remans syndrome: A rare syndrome characterized by the progressive fusion of the front of the vertebrae as well as the excessive growth of the whole body.
  • Fuhrmann syndrome: A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone).
  • Fuhrmann-Rieger-de Sousa syndrome: A rare syndrome characterized mainly by abnormalities involving the thighbone, fingers and fibula (calf bone).
  • Gentamicin -- Teratogenic Agent: There is evidence to indicate that exposure to Gentamicin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Golden-Lakin syndrome: A rare syndrome characterized by a webbed neck, sunken chest, curved spine and various other abnormalities.
  • Gordon Syndrome: A genetic musculoskeletal disorder characterized mainly by camptodactyly, cleft palate and club foot. The type and severity of symptoms is variable.
  • Gradual onset of clubbing: Gradual onset of clubbing is a slow development of club-shaped finger and fingernail deformities.
  • Hamman-Rich syndrome: A rare acute lung disease where the lung sufferers progressive inflammation and fibrosis which often leads to death.
  • Hand symptoms: Symptoms affecting the hand
  • Haspeslagh Fryns Muelenaere syndrome: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
  • Head symptoms: Symptoms affecting the head or brain
  • Heart cancer: A malignancy that is located in the heart
  • Heart conditions: Any condition that affects the heart
  • Heart symptoms: Symptoms affecting the heart
  • Hecht syndrome: A rare genetic disorder characterized by the inability to open the mouth due to short muscles as well as hand movement abnormalities also due to shortened muscles.
  • Herbal Agent adverse reaction -- Senna: Senna can be used to treat constipation or to prepare the colon for a rectal examination. The herbal agent can cause an adverse reaction in some people.
  • Herrmann Opitz arthrogryposis syndrome: A very rare syndrome characterized mainly by contractures, skeletal abnormalities and short stature.
  • Hoon-Hall syndrome: A very rare syndrome characterized mainly by dislocated joints and various other skeletal abnormalities.
  • Humerospinal dysostosis -- congenital heart disease: A very rare syndrome characterized mainly by various skeletal defects and heart disease which is present at birth.
  • Hydrochlorothiazide -- Teratogenic Agent: There is evidence to indicate that exposure to Hydrochlorothiazide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Hydrolethalus syndrome: A rare genetic disorder characterized by hydrocephalus, micrognathia and polydactyly.
  • Hydrops ectrodactyly syndactyly: A very rare disorder characterized mainly be webbed fingers and toes, hand defect and hydrops (abnormal accumulation of fluid in the fetus).
  • Hypersensitivity pneumonitis:
  • Hyperthyroidism: The excessive activity of the thyroid gland
  • Hypoplastic thumbs -- hydranencephaly: A very rare syndrome characterized mainly by underdeveloped thumb and abnormal brain development where the cerebral space is filled with cerebrospinal fluid instead of brain tissue.
  • Idaho syndrome: A very rare syndrome characterized by a variety of abnormalities including clubfoot, mental retardation, finger abnormalities and a congenital heart defect.
  • Idiopathic Pulmonary Fibrosis: Lung fibrosis from unknown causes.
  • Idiopathic diffuse interstitial fibrosis: A rare lung disease involving progressive inflammation and scarring (fibrosis) of deep lung tissue which can cause shortness of breath. In idiopathic forms of the condition, there is no apparent cause.
  • Idiopathic pulmonary hemosiderosis: A rare disorder involving bleeding into the lungs which can eventually cause damage to the lungs.
  • Idiopathic pulmonary hypertension: A rare condition where sclerosis of the pulmonary arteries cause cyanosis, polycythemia and heart failure.
  • Imaizumi Kuroki syndrome: A very rare syndrome characterized mainly by premature skull fusion and forearm abnormalities.
  • Incontinentia Pigmenti: A rare genetic skin pigmentation disorder characterized by eye, teeth, bone, nail and hair malformations as well as central nervous abnormalities and mental deficiency.
  • Indigo Carmine -- Teratogenic Agent: There is evidence to indicate that exposure to Indigo Carmine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Infective endocarditis: The infection and inflammation of the inner heart layers, especially the valves. The infection is usually bacterial. The condition carries a high risk of death.
  • Infex -- Teratogenic Agent: There is evidence to indicate that exposure to Infex (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Inflammatory bowel disease: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable.
  • Insulin -- Teratogenic Agent: There is evidence to indicate that exposure to Insulin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Interstitial lung disease: Any condition which affects the interstitium of the lungs
  • Isoproterenol -- Teratogenic Agent: There is evidence to indicate that exposure to Isoproterenol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Ivemark Syndrome: A rare progressive disorder characterized by absence or abnormal development of the spleen and malformations of the heart vessels.
  • Jansen type metaphyseal chondrodysplasia: A rare genetic disorder characterized by extremely short stature, unusual face and skeletal and joint abnormalities.
  • Jequier-Kozlowski-skeletal dysplasia: A very rare syndrome characterized mainly by various skeletal abnormalities and facial anomalies.
  • Klaricid -- Teratogenic Agent: There is evidence to indicate that exposure to Klaricid (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Kosztolanyi syndrome: A very rare syndrome characterized mainly by severely retarded development, long thin fingers, mental retardation and skull and facial abnormalities.
  • Kozlowski Celermajer Tink syndrome: A very rare syndrome characterized by the association of heart disease with a short upper arm bone and spinal anomalies. There are also other variable symptoms.
  • Kozlowski-Celermajer syndrome: A rare disorder characterized by congenital heart disease and spine and upper arm bone abnormalities.
  • Kurczynski-Casperson syndrome: A very rare syndrome characterized mainly by premature fusion of skull bones, abnormal ears and webbing of the last two toes.
  • Lambert syndrome: A rare syndrome characterized by a club foot, inguinal hernia, biliary atresia and branchial dysplasia.
  • Lamotrigine -- Teratogenic Agent: There is evidence to indicate that exposure to Lamotrigine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Lateral body wall complex: A very rare syndrome characterized involving the absence of the whole or part of an arm or leg as well as a severe defect of the abdominal wall. Death often occurs at birth.
  • Le Marec-Bracq-Picaud syndrome: A very rare syndrome characterized mainly by a large head, short arms and clubfoot.
  • Lederle -- Teratogenic Agent: There is evidence to indicate that exposure to Lederle (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Ledermycin -- Teratogenic Agent: There is evidence to indicate that exposure to Ledermycin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Leg symptoms: Symptoms affecting the leg
  • Lethal chondrodysplasia, Moerman type: A very rare lethal syndrome characterized mainly by abnormal bone development.
  • Limb symptoms: Symptoms affecting the limbs
  • Lissencephaly type III -- metacarpal bone dysplasia: A rare syndrome characterized by an abnormally smooth brain as well as abnormal bone development in the hands.
  • Lithium -- Teratogenic Agent: There is evidence to indicate that exposure to Lithium during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Liver symptoms: Symptoms affecting the liver
  • Low birth weight -- dwarfism -- dysgammaglobulinemia: A very rare syndrome characterized mainly by low birth weight, short stature and a immune system abnormality.
  • Lower leg symptoms: Symptoms affecting the lower legs, calves and shins.
  • Lung abscess: The formation of a localized collection of puss in a cavity in the lungs
  • Lung cancer: Lung cancer is a disease of uncontrolled cell growth in tissues of the lung. This growth may lead to metastasis, which is the invasion of adjacent tissue and infiltration beyond the lungs. Most lung tumors are malignant.
  • Lung conditions: Various conditions affecting the lungs or related airways.
  • Lung symptoms: Symptoms affecting one or both lungs.
  • Lutz-Richner-Landolt syndrome: A rare disorder involving kidney and biliary abnormalities.
  • Lymphoid interstitial pneumonia: A relatively rare form of lung disease characterized by the buildup of lymphocytes (a type of white blood cell) in the air spaces or alveoli of the lungs. The condition can affect children or adults and is frequently associated with conditions such as HIV and autoimmune conditions such as rheumatoid arthritis and Hashimoto's thyroiditis. Symptoms may develop gradually over a period of months or even years in some cases.
  • MDMA -- Teratogenic Agent: There is evidence to indicate that exposure to MDMA during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Malabsorption: Dysfunctional absorption
  • Marden-Walker Syndrome: A rare genetic disorder characterized by blepharophimosis, joint contractures and fixed facial expression.
  • Marden-Walker-like syndrome: A very rare syndrome characterized mainly by long, thin fingers, contractures from birth and narrow eye slits.
  • Marie-Bamberg syndrome: A rare condition characterized by clubbing of fingers and toes, excessive sweating and development of fibrous tissue around the ends of bones. The condition is a form of hypertrophic osteoarthropathy that occurs secondary to other conditions such as cardiopulmonary disease and certain cancers.
  • Massa-Casaer-Ceulemans syndrome: A very rare syndrome characterized mainly by abnormal brain development (lissencephaly - smooth brain) and multiple joint contractures at birth.
  • Meckel Syndrome: A rare genetic disorder involving numerous abnormalities and characterized by death within the first few weeks.
  • Megarbane syndrome: A very rare disorder characterized by short stature, loose joints, hernias, facial abnormalities and severe psychomotor retardation.
  • Mental Retardation -- Pterygia -- Shortness -- Distinctive Facial Appearance: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
  • Mental mixed retardation -- deafness -- clubbed digits: A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers.
  • Mental mixed retardation deafnes clubbed digits: A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers.
  • Mental retardation -- hip luxation -- G6PD variant: A very rare syndrome characterized mainly by mental retardation, partially dislocated hips and an enzyme defect (G6PD).
  • Mental retardation -- unusual facies -- talipes -- hand anomalies: A very rare syndrome characterized mainly by mental retardation, unusual facial appearance, clubfoot and hand abnormalities.
  • Mental retardation unusual facies ampola type: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • Mental retardation, Wolff type: A very rare syndrome characterized mainly by severe mental retardation and facial anomalies. The parents came from the same bloodline.
  • Mesothelioma: Type of lung cancer associated with asbestos.
  • Methacycline -- Teratogenic Agent: There is evidence to indicate that exposure to Methacycline during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Methocarbamol -- Teratogenic Agent: There is evidence to indicate that exposure to Methocarbamol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Methotrexate -- Teratogenic Agent: There is evidence to indicate that exposure to Methotrexate during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Methyclothiazide -- Teratogenic Agent: There is evidence to indicate that exposure to Methyclothiazide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Metolazone -- Teratogenic Agent: There is evidence to indicate that exposure to Metolazone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Miconazole -- Teratogenic Agent: There is evidence to indicate that exposure to Miconazole during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Microcephalic osteodysplastic dysplasia, Saul-Wilson type: A rare skeletal disorder characterized by various abnormalities including short stature, short digits, cataracts and small head.
  • Microcephaly -- seizures -- mental retardation -- heart disorders: A very rare syndrome characterized mainly by a small head, seizures, mental retardation and heart disorders.
  • Mifepristone -- Teratogenic Agent: There is evidence to indicate that exposure to Mifepristone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Minocycline -- Teratogenic Agent: There is evidence to indicate that exposure to Minocycline during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Misoprostol -- Teratogenic Agent: There is evidence to indicate that exposure to Misoprostol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Mobius syndrome: A rare genetic condition characterized by defective cranial nerves (6th and 7th), deafness, facial nerve paralysis and other abnormalities.
  • Moebius Syndrome: Moebius syndrome is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis.
  • Moebius sequence: A rare genetic disorder characterized by facial paralysis due to problems with 6th and 7th nerve development.
  • Morava-Mehes syndrome: A rare syndrome characterized mainly by an underdeveloped bones in the forearm, calf and fourth and fifth fingers, short stature and unusual facial appearance.
  • Morse-Rawnsley-Sargent syndrome: A very rare syndrome characterized mainly by abnormal brain development and reduced fetal movement.
  • Moynahan syndrome III: A rare syndrome characterized mainly by short stature, defective tooth enamel, clubfoot, skin problems and a variety of other anomalies. Blisters tend to occur during the warmer months of the year.
  • Multicore disease: A nonprogressive congenital muscle disease which mainly involves weakness of the proximal muscles. The severity of symptoms is variable.
  • Multiple pterygium syndrome: A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.
  • Möbius Syndrome: Möbius syndrome is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis.
  • Nail-Patella Syndrome: A rare inherited disorder characterized by small or absent kneecap and ridged and/or absent nails as well as other abnormalities
  • Nasopharyngeal teratoma with Dandy-Walker -- diaphragmatic hernia: A very rare syndrome characterized mainly by a nasopharyngeal tumor, diaphragmatic hernia and the Dandy-Walker anomaly (brain cyst).
  • Neomycin -- Teratogenic Agent: There is evidence to indicate that exposure to Neomycin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Nievergelt syndrome: A rare inherited bone disease which causes abnormalities in the lower leg and lower arm bones as well as dwarfism and digit anomalies.
  • Nytol -- Teratogenic Agent: There is evidence to indicate that exposure to Nytol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Omeprazole -- Teratogenic Agent: There is evidence to indicate that exposure to Omeprazole during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Opitz-Reynolds-Fitzgerald syndrome: A very rare syndrome characterized mainly by extra little fingers, deafness and bone abnormalities of the face.
  • Opthalmo acromelic syndrome: A very rare syndrome characterized mainly by missing eyes and limb anomalies.
  • Oral facial digital syndrome, type 4: A rare inherited disorder characterized by facial, digital and oral abnormalities. Type IV is differentiated from the other types by the presence of severe shinbone deformity.
  • Osteogenesis imperfecta -- congenital joint contractures: A very rare syndrome characterized primarily by weak, brittle bones and abnormal knee, ankle and foot joints (congenital contractures) at birth. There are two different subtypes of the disorder, each with a different genetic defect origin: Bruck Syndrome 1 and Bruck Syndrome 2.
  • Otoonychoperoneal syndrome: A very rare syndrome characterized mainly by underdeveloped ears and nails, shoulder anomalies and straight collarbones.
  • Oxytetracycline -- Teratogenic Agent: There is evidence to indicate that exposure to Oxytetracycline during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Papaverine -- Teratogenic Agent: There is evidence to indicate that exposure to Papaverine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Paramethadione -- Teratogenic Agent: There is evidence to indicate that exposure to Paramethadione during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Paroxetine -- Teratogenic Agent: There is evidence to indicate that exposure to Paroxetine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Partial Trisomy 18 Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of only part of chromosome 18 in the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of the whole of chromosome 18 in all of the body's cells. The severity of the condition is highly variable depending on how many of the body's cells are involved and how much of the chromosome is involved.
  • Pelvic dysplasia arthrogryposis of lower limbs: A very rare syndrome characterized mainly by pelvic anomalies and joint contractures involving the legs.
  • Penicillamine -- Teratogenic Agent: There is evidence to indicate that exposure to Penicillamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Penicillamine, D -- Teratogenic Agent: There is evidence to indicate that exposure to Penicillamine, D during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Peroxisomal bifunctional enzyme deficiency: A rare disorder involving abnormal steroid metabolism due to an enzyme 17-beta-hydroxysteroid dehydrogenase 4) deficiency. The symptoms which make the condition appear very similar to another condition called neonatal adrenoleukodystrophy.
  • Peutz-Jeghers Syndrome: A hereditary disorder involving the presence of numerous polyps in the lining of the small intestine and pigmentation around the lips, inside the mouth and on the palms and soles.
  • Phenylephrine -- Teratogenic Agent: There is evidence to indicate that exposure to Phenylephrine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Pitt-Hopkins syndrome: A very rare syndrome characterized mainly by mental retardation with periods of overbreathing and apnea.
  • Pizotifen -- Teratogenic Agent: There is evidence to indicate that exposure to Pizotifen during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Plum syndrome: A very rare syndrome characterized mainly by eye, brain and bone abnormalities.
  • Polythiazide -- Teratogenic Agent: There is evidence to indicate that exposure to Polythiazide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Potter syndrome: A congenital condition involving absence of kidneys resulting in decreased amniotic fluid and compression of the fetus. The affected baby has leg deformities, poorly developed lungs and a wrinkled, flattened facial appearance and often don't survive.
  • Prednisone -- Teratogenic Agent: There is evidence to indicate that exposure to Prednisone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Primary pulmonary hypertension: Primary pulmonary hypertension refers to high blood pressure in the arteries that carry blood to the lungs for no apparent reason. Blood pressure in other parts of the body is normal or sometimes even low.
  • Primary pulmonary hypertension -- Dexfenfluramine-associated: Dexfenfluramine-associated primary pulmonary hypertension refers to high blood pressure in the blood vessels that carry blood to the lungs as a result of using a diet drug called Dexfenfluramine. Blood pressure in other parts of the body is normal or sometimes even low. Only certain people with a particular genetic anomaly will develop this condition when using the diet drug.
  • Primary pulmonary hypertension -- Fenfluramine-associated: Fenfluramine-associated primary pulmonary hypertension refers to high blood pressure in the blood vessels that carry blood to the lungs as a result of using a diet drug called Fenfluramine. Blood pressure in other parts of the body is normal or sometimes even low. Only certain people with a particular genetic anomaly will develop this condition when using the diet drug.
  • Progestagen -- Teratogenic Agent: There is evidence to indicate that exposure to Progestagen during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Prosencephaly -- cerebellar dysgenesis: A very rare condition involving abnormal development of the forebrain.
  • Pseudodiastrophic dysplasia: A rare genetic disorder characterized by short stature, contractures and joint dislocations.
  • Pseudoephedrine -- Teratogenic Agent: There is evidence to indicate that exposure to Pseudoephedrine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Pterygia -- Mental retardation -- Distinctive Craniofacial Features: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
  • Pulmonary Alveolar Proteinosis: An abnormal condition where phospholipids and proteins are deposited in the alveoli of the lung. More prevalent in males with some patients having no symptoms and others having an unproductive cough and progressive dyspnea with exertion. The condition increases the risk of secondary infection. Also called alveolar proteinosis.
  • Pulmonary alveolar proteinosis, congenital: A rare lung disease where protein and fat molecules accumulate in the distant parts of the lungs and affect breathing.
  • Pulmonary arterio-veinous aneurysm: A very rare disorder where there is an abnormal opening between a pulmonary artery and vein which can affect blood oxygenation.
  • Pulmonary arteriovenous fistula: A rare genetic defect where one or more the arteries and veins in the lung are connected via an abnormal opening or fistula which affects the oxygenation level of body tissues.
  • Pulmonary arteriovenous malformation: A rare malformation where there is an abnormal opening between a lung artery and a lung vein which causes some blood to pass through the lungs without being oxygenated.
  • Pulmonary fibrosis: A scarring condition that affects the lungs
  • Pulmonary fibrosis /granuloma: A lung disease characterized by stiffening and inflammation of lung tissue.
  • Pulmonary hemangiomatosis: A rare condition characterized by the proliferation of small blood vessels or capillaries in various parts of the lungs - pleura, bronchial and venous walls and alveolar septa.
  • Pulmonary hypertension: The occurrence of hypertension the blood vessels of the lungs
  • Pulmonary hypoxic hypertension: Pulmonary hypoxic hypertension is characterized by high blood pressure and low oxygen levels that result from constriction of the blood vessels leading to the lungs.
  • Pulmonary surfactant protein B, deficiency of: A rare lung disease where protein and fat molecules accumulate in the distant parts of the lungs and affect breathing. The disease is called by a deficiency of a the lung surfactant protein B.
  • Pulmonary thromboembolic hypertension: Pulmonary thromboembolic hypertension refers to high blood pressure in the blood vessels that carry blood to the lungs due to a blood clot in one of these blood vessels. Blood pressure in other parts of the body is normal or sometimes even low.
  • Quinethazone -- Teratogenic Agent: There is evidence to indicate that exposure to Quinethazone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Radial defect -- Robin sequence: A very rare syndrome characterized mainly by abnormal forearm bone, club foot, finger and toe abnormalities and a cleft palate.
  • Radio digito -- facial dysplasia: A very rare syndrome characterized mainly by abnormalities of the arm bones and facial anomalies.
  • Radio renal syndrome: A very rare syndrome characterized mainly by kidney, forearm and and thumb abnormalities.
  • Ranitidine -- Teratogenic Agent: There is evidence to indicate that exposure to Ranitidine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Ray-Peterson-Scott syndrome: A very rare syndrome characterized mainly by pelvic anomalies and joint contractures involving the legs.
  • Renal dysplasia -- limb defects syndrome: A very rare syndrome characterized mainly by abnormal kidney development and various arm bone defects.
  • Respiratory conditions: Any condition that affects the respiratory system
  • Richieri-Costa Pereira syndrome: A rare syndrome characterized mainly by the association of short stature, Pierre Robin sequence, cleft mandible, hand anomalies and clubfoot.
  • Richieri-Costa-Silveira-Pereira syndrome: A very rare syndrome characterized mainly by short stature, hand anomaly, clubfoot a cleft palate and various other abnormalities.
  • Sacral agenesis: A very rare syndrome characterized mainly by the abnormal development of the tailbone (sacrum).
  • Sandhaus Ben-Ami syndrome: A rare disorder characterized by an underdeveloped kneecap and other skeletal abnormalities.
  • Sandrow syndrome: A disorder characterized mainly by hand and foot defects as well as nose abnormalities which affects the ability to breath.
  • Santos Syndrome: A rare syndrome observed in a six people from one family and characterized mainly by various skeletal problems.
  • Sarcoidosis: Rare autoimmune disease usually affecting the lungs.
  • Scapuloperoneal myopathy: An inherited disorder involving muscle wasting and weakness in the shoulder and lower leg.
  • Scapuloperoneal syndrome, neurogenic type: An inherited disorder involving muscle wasting and weakness in the shoulder and lower leg. The legs are often affected first.
  • Scapuloperoneal syndrome, neurogenic, Kaeser type: An inherited disorder involving muscle wasting and weakness in the shoulder and lower leg. The legs are often affected first.
  • Schinzel Giedion Syndrome: A rare genetic disorder characterized by many skeletal and genital anomalies, unusual face, mental retardation and kidney malformations.
  • Seckel syndrome: A rare condition characterized by fetal and postnatal growth retardation, mental retardation and characteristic facial features.
  • Seckel-like syndrome, type Buebel: A rare syndrome characterized by dwarfism and other abnormalities characteristic of Seckel syndrome as well as hand and foot anomalies.
  • Secondary pulmonary hypertension: Secondary pulmonary hypertension refers to high blood pressure in the arteries that carry blood to the lungs. Blood pressure in other parts of the body is normal or sometimes even low. The condition may be caused by such things as lung conditions (e.g. emphysema, chronic bronchitis), heart conditions (e.g. congestive heart failure, birth defects involving heart), AIDS or medications such as fenfluramine (a diet drug).
  • Shell nail syndrome: A syndrome characterized by deterioration of the nail beds, clubbed fingers, inflammation around the bone and bronchiectasis.
  • Short limb dwarfism, Al Gazali type: A very rare lethal disorder involving severe limb shortening and other skeletal deformities.
  • Short stature -- Robin sequence -- cleft mandible -- hand anomalies -- clubfoot: A very rare syndrome characterized mainly by short stature, a cleft in the lower jaw, hand anomalies, club foot and mouth abnormalities (Robin sequence).
  • Short stature -- craniofacial anomalies -- genital hypoplasia: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
  • Short stature -- talipes -- natal teeth: A very rare syndrome characterized mainly by short stature, early tooth eruption, and a foot deformity (talipes).
  • Shprintzen-Golberg craniosynostosis: A very rare syndrome characterized by premature fusion of skull bones and a Marfanoid appearance, skeletal anomalies and learning problems.
  • Sillence syndrome: An extremely rare genetic disorder primarily involving digit abnormalities, scoliosis and club feet.
  • Simvastatin -- Teratogenic Agent: There is evidence to indicate that exposure to Simvastatin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Skeletal dysplasia -- mental retardation: A rare recessively inherited disorder characterized mainly by mental retardation, a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
  • Smith-Lemli-Opitz syndrome, type 2: A rare birth disorder where an enzyme deficiency (7-dehydrocholesterol reductase) prevents cholesterol being metabolized properly. The condition causes a variety of physical abnormalities. Type II is a more severe form of the condition.
  • Spinal Muscular Atrophy: A rare condition characterized by progressive degeneration of the spinal and brainstem motor neurons. During fetal development excess primary neurons are formed. The body automatically destroys the extra primary neurons so that only some survive and mature into neurons. In spinal muscular dystrophy, the process that destroys the excess primary neurons doesn't switch off and continues destroying the neurons resulting in progressive motor problems. Various types of the condition range from mild to severe enough to cause death within a couple of years of birth.
  • Spondylocostal dysostosis, Dandy-Walker: A rare syndrome characterized mainly by rib and spine abnormalities as well as the Dandy-Walker anomaly (brain cyst).
  • Spondylocostal dysplasia dominant: A rare, dominantly inherited syndrome characterized mainly by rib and spine abnormalities.
  • Spondyloepimetaphyseal dysplasia joint laxity: A very rare syndrome characterized by abnormal bone growth involving severe scoliosis and loose joints.
  • Spondyloepimetaphyseal dysplasia with joint laxity: A rare skeletal disorder where the spine and long bones grow and develop abnormally. Loose joints and severe curvature of the spine is also present. The condition is severe and death in the first couple of decades is common.
  • Spondylohypoplasia arthrogryposis popliteal pterygium: A very rare inherited syndrome characterized by webbing at the back of the knees, spinal defects and various other skeletal abnormalities.
  • Spondylohypoplasia, arthrogryposis and popliteal pterygium: A very rare inherited syndrome characterized by webbing at the back of the knees, spinal defects and various other skeletal abnormalities.
  • Stickler Syndrome: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities.
  • Stickler Syndrome, type I: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities. Type 1 is caused by a genetic defect on chromosome 12q13.11-q13.2
  • Stickler Syndrome, type II: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities. Type 2 is caused by a genetic defect on chromosome 1p21
  • Stickler Syndrome, type III: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and ear abnormalities. Type 3 is caused by a genetic defect on chromosome 6q21.3. Type 3 doesn't involve any of the eye problems that occur in type 1 and 2.
  • Stickler's syndrome: A condition which is characterized by a hereditary progressive arthro-ophthalmopathy
  • Streptomycin -- Teratogenic Agent: There is evidence to indicate that exposure to Streptomycin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Suffocation: The death of an individual due to a lack of oxygen
  • Sulfasalazine -- Teratogenic Agent: There is evidence to indicate that exposure to Sulfasalazine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Sulphasalazine -- Teratogenic Agent: There is evidence to indicate that exposure to Sulphasalazine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Sumatriptan -- Teratogenic Agent: There is evidence to indicate that exposure to Sumatriptan during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Surfactant Metabolism Dysfunction: Surfactant metabolism dysfunction is a group of genetic conditions characterized by servere breathing problems or breathing failure in infants who were born at full term. A genetic defect results in a disruption of the lipids and proteins which reduced the surface tension in the lung alveoli and allows transfer of oxgent between the lungs and the blood supply.
  • Surfactant Metabolism Dysfunction, Pulmonary, 1: Surfactant metabolism dysfunction is a group of genetic conditions characterized by severe breathing problems or breathing failure in infants who were born at full term. A genetic defect results in a disruption of the lipids and proteins which reduced the surface tension in the lung alveoli and allows transfer of oxgen between the lungs and the blood supply. Type 1 involves a defect in the pulmonary associated surfactant protein B (SFTPB) and due to a genetic anomaly located on chromosome 2p12-11.2.
  • Surfactant Metabolism Dysfunction, Pulmonary, 2: Surfactant metabolism dysfunction is a group of genetic conditions characterized by severe breathing problems or breathing failure in infants who were born at full term. A genetic defect results in a disruption of the lipids and proteins which reduced the surface tension in the lung alveoli and allows transfer of oxygen between the lungs and the blood supply. Type 2 involves a defect in the pulmonary associated surfactant protein C (SFTPC) and due to a genetic anomaly located on chromosome 8p21.
  • Surfactant Metabolism Dysfunction, Pulmonary, 3: Surfactant metabolism dysfunction is a group of genetic conditions characterized by severe breathing problems or breathing failure in infants who were born at full term. A genetic defect results in a disruption of the lipids and proteins which reduced the surface tension in the lung alveoli and allows transfer of oxgen between the lungs and the blood supply. Type 3 involves a defect on chromosome 16p13.3 which is believed to affect the secretion of surfactant.
  • TAU syndrome: A very rare syndrome characterized mainly by reduced blood platelet level and absent ulna bone (forearm bone).
  • Taussig Bing syndrome: A very rare birth defect where the aorta and the pulmonary artery both exit from the right ventricle and thus blood is unable to be pumped to the lungs. However, a hole connects the two ventricles and ultimately allows some blood flow to the lungs. In the type III the hole is located just below the pulmonary artery.
  • Tel-Hashomer camptodactyly syndrome: A very rare syndrome characterized mainly by finger flexion, facial anomalies, short stature and muscle problems.
  • Terpin hydrate -- Teratogenic Agent: There is evidence to indicate that exposure to Terpin hydrate during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Tetracycline -- Teratogenic Agent: There is evidence to indicate that exposure to Tetracycline during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Tetralogy of Fallot: A condition which is characterized pulmonary stenosis, interventricular septal defect, right ventricular hypertrophy and dextroposition of the aorta
  • Tetraploidy: A very rare chromosomal disorder which results in various abnormalities. Infants are usually stillborn or die within months of birth.
  • Thiopropazate -- Teratogenic Agent: There is evidence to indicate that exposure to Thiopropazate during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Thoracolimb dysplasia, Rivera type: A very rare syndrome characterized mainly by chest and limb abnormalities.
  • Thyrotoxicosis: hypermetabolic clinical syndrome resulting from serum elevations in thyroid hormone levels, specifically free thyroxine (T4), triiodothyronine (T3), or both.
  • Tibia absent -- polydactyly -- arachnoid cyst: A very rare syndrome characterized mainly by extra fingers, an absent shinbone and a brain cyst.
  • Toe symptoms: Symptoms affecting the toes
  • Tolbutamide -- Teratogenic Agent: There is evidence to indicate that exposure to Tolbutamide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Triaminic -- Teratogenic Agent: There is evidence to indicate that exposure to Triaminic during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Trichlormethiazide -- Teratogenic Agent: There is evidence to indicate that exposure to Trichlormethiazide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Tricuspid atresia: A rare congenital malformation where the tricuspid valve is absent and hence the right atrium is not connected to the right ventricle
  • Trimethadione -- Teratogenic Agent: There is evidence to indicate that exposure to Trimethadione during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Trip (2) (q11.2-q21): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Triploid syndrome: A complete extra set of chromosomes.
  • Trisomy 18 Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Edwards syndrome is more severe than the more common Down syndrome. Edwards syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
  • Trisomy 18 mosaicism: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18 in only some of the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of chromosome 18 in all of the body's cells. The severity of the condition is highly variable depending on how many of the body's cells are involved.
  • Trisomy 19 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 19 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
  • Trisomy 6: A rare chromosomal disorder involving the duplication of chromosome 6 which results in variable symptoms including mental retardation, retarded growth, facial anomalies and various other abnormalities. Full Trisomy 6 is results in spontaneous abortion whereas various degrees of Trisomy 6q can result in syndromes of variable severity depending on the size of the duplication.
  • Tuberculosis: Bacterial infection causing nodules forming, most commonly in the lung.
  • Ulcerative colitis: Ulcerative colitis (Colitis ulcerosa, UC) is a form of inflammatory bowel disease (IBD). Ulcerative colitis is a form of colitis, a disease of the intestine, specifically the large intestine or colon, that includes characteristic ulcers, or open sores, in the colon.
  • Ulna hypoplasia with mental retardation: A condition which is characterised by short upper limbs, club feet, and absence of fingernails.
  • Ulnar hypoplasia with mental retardation: A condition which is characterised by short upper limbs, club feet, and absence of fingernails
  • Unusual facies, digital anomalies, and supernumerary teeth: A rare, dominantly inherited syndrome characterized mainly by an unusual face, extra teeth and anomalies of the fingers and toes.
  • VACTERL with hydrocephalus, X-linked: A rare X-linked syndrome characterized by the VACTERL abnormalities (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, limb defects) as well as a buildup of fluid inside the skull (hydrocephalus).

Conditions listing medical symptoms: Clubbing:

The following list of conditions have 'Clubbing' or similar listed as a symptom in our database. This computer-generated list may be inaccurate or incomplete. Always seek prompt professional medical advice about the cause of any symptom.

Select from the following alphabetical view of conditions which include a symptom of Clubbing or choose View All.

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Conditions listing medical complications: Clubbing:

The following list of medical conditions have 'Clubbing' or similar listed as a medical complication in our database.
Last revision: Nov 20, 2003

 

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