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Symptoms » Cleft palate » Glossary
 

Glossary for Cleft palate

Medical terms related to Cleft palate or mentioned in this section include:

  • 11q Partial Trisomy: A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severity of symptoms that can occur are variable.
  • 14q+ syndrome: A rare chromosomal disorder involving duplication of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
  • 18p minus syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material that is missing.
  • 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.
  • 22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
  • 2q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 2q22-q24 deletion: A rare chromosomal disorder where part of the long arm (q22-q24) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 3C syndrome: A rare disorder characterized by cardiac malformations, cerebellar hypoplasia and cranial dysmorphism which gives the disease it's name.
  • 3q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 3 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.
  • Abruzzo Erickson syndrome: A genetic disorder characterized by a combination of features including cleft palate, coloboma and deafness.
  • Absent corpus callosum -- cataract -- immunodeficiency: A rare syndrome characterized by immunodeficiency, cleft lip or palate, cataract, reduced pigmentation and brain abnormalities.
  • Accutane -- Teratogenic Agent: There is strong evidence to indicate that the use of Accutane during pregnancy may cause 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.
  • Achard syndrome: An inherited connective tissue disorder characterized primarily by a short head, long, slender bones, recessed lower jaw and loose hand and foot joints.
  • Achondrogenesis: A type of dwarfism where the main limbs are short and the head and trunk are hydropic (contain an accumulation of clear fluid).
  • Acrocallosal Syndrome (Schinzel Type): A rare condition characterized by absence of portion of the brain (corpus callosum), mental deficiency, duplicated toes, mental deficiency and other abnormalities.
  • 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.
  • Acrofacial dysostosis Rodriguez type: One of a group of disorders characterized by defective limb and facial development. The Rodriguez type is very rare and primarily involves severe limb and organ malformations.
  • Acrofacial dysostosis atypical postaxial: A rare genetic disorder characterized by absence of some fingers and toes and characteristic facial features.
  • Acrofacial dysostosis autosomal recessive: A rare inherited disorder characterized mainly by facial, hand and foot anomalies. The disorder resembles Nager syndrome.
  • Acrofacial dysostosis postaxial, atypical: A rare disorder characterized by an unusual facial appearance, short stature and hand and foot bone anomalies. The disorder may be related to the fact that the infants were born to mothers with diabetes.
  • Acrofacial dysostosis, Nager type: A rare genetic disorder characterized by underdeveloped thumbs, forearm and cheekbones as well as ear defects.
  • Acrofrontofacionasal dysostosis syndrome: A very rare syndrome characterized by abnormalities of the bones of the skeleton as well as mental retardation. Various facial, eye and urogenital anomalies are also present.
  • Acrosphenosyndactylia: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
  • Acyclovir -- Teratogenic Agent: There is strong evidence to indicate that exposure to Acyclovir 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.
  • 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.
  • Aflatoxin B1- Teratogenic Agent: Reports indicate that the use of Aflatoxin B1 during pregnancy may cause various harmful effects on the fetus. The likelihood and severity of symptoms may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at. The effect on human fetuses has not been conclusively determined.
  • Agammaglobulinemia -- microcephaly -- craniosynostosis -- severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
  • Agammaglobulinemia, microcephaly, and severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
  • Alopecia, anosmia, deafness, hypogonadism syndrome: A rare
  • Alves Castelo dos Santos syndrome: A rare syndrome characterized by hair, eye, skin and spinal abnormalities.
  • 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.
  • Amphetamines -- Teratogenic Agent: There is strong evidence to indicate that the use of Amphetamines during pregnancy may cause 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.
  • André syndrome: A rare fatal syndrome characterized mainly by bone calcification abnormalities and facial anomalies. Death usually occurs within weeks of birth.
  • Ankyloblepharon filiforme adnatum -- cleft palate: A rare inherited genetic disorder characterized by a cleft palate and eyelid fusion.
  • Anophthalmia -- cleft palate -- micrognathia: A rare syndrome characterized mainly by absent eyes, cleft palate and a small jaw.
  • Anophthalmia -- hypothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
  • Anophthalmia -- hypyothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
  • Anophthalmia cleft lip palate hypothalamic disorder: A very rare inherited disorder characterized by one missing eye and one very small eye, cleft lip, cleft palate and high levels of thyroid-stimulating hormone.
  • Anophthalmia plus syndrome: An extremely rare disorder characterized by absent or very small eyes, underdeveloped ears and other facial anomalies.
  • Anotia -- facial palsy -- cardiac defect: A rare syndrome characterized mainly missing ears, facial weakness and congenital heart defects.
  • Apelt-Gerkin-Lenz Syndrome: A rare inherited syndrome characterized by clefting of the lip and palate as well as the absence of variable portions of all of the limbs.
  • Apert syndrome: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
  • Arthrogryposis distal type II: A very rare syndrome characterized by permanent flexion of the fingers as well as other birth defects.
  • 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.
  • Atorvastatin -- Teratogenic Agent: There is strong evidence to indicate that exposure to Atorvastatin 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.
  • Aughton syndrome: A very rare syndrome characterized primarily by small eyes, cleft palate, mental retardation and dextrocardia (heart located on right side of chest instead of left).
  • Auricular abnormalities -- cleft lip with or without cleft palate -- ocular abnormalities: A rare syndrome characterized by the association of external ear and eye abnormalities, cleft lip and sometimes a cleft palate.
  • Auriculo-condylar syndrome: A rare syndrome characterized by variable ear and jaw abnormalities.
  • Auriculoocular anomalies -- cleft lip: A very rare syndrome characterized by the association of abnormal external ears and a cleft lip and sometimes a cleft palate. Only two cases of the condition has been reported.
  • Autosomal Recessive Tetra-Amelia: A rare disorder characterized by the absence of all four extremities as well as skeletal, nervous system, craniofacial and other abnormalities. The condition is causes death before or soon after birth.
  • Axenfeld-Rieger syndrome: A rare genetic disorder characterized by underdeveloped or absent teeth and craniofacial and eye abnormalities. The range of symptoms that can occur is somewhat variable.
  • Axial mesodermal dysplasia spectrum: A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop.
  • BBB syndrome, X-linked: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner. Females with type I tend to have few if any symptoms - often the only symptom is wide-set eyes.
  • Bamforth syndrome: A rare syndrome characterized mainly by the association of an abnormal opening in the roof of the mouth and reduced thyroid functioning.
  • Baraitser-Rodeck-Garner syndrome: A very rare syndrome characterized primarily by mental retardation, premature fusion of skull bones, kidney anomalies, seizures and facial anomalies.
  • Bartsocas Papa syndrome: A rare condition characterized by webbing of skin as well as various other physical and mental abnormalities.
  • Beare-Stevenson cutis gyrata syndrome: A rare genetic disorder involving skin and skull abnormalities due to the premature fusion of skull bones.
  • Beare-Stevenson cutis gyrate syndrome:
  • Beemer-Langer syndrome: A very rare inherited condition characterized by a number of congenital abnormalities and death generally occurs during early infancy.
  • Berndorfer syndrome: A rare syndrome characterized mainly by a cleft palate, harelip and cleft hands and feet.
  • Birth defects: Conditions which are present at birth and are considered alterations to what is considered normal in a newborn baby
  • Bixler-Christian-Gorlin syndrome: A very rare syndrome characterized primarily by widely spaced eyes, small ears and a clefts in the lip, palate and nose.
  • Blepharo facio skeletal syndrome: A very rare syndrome characterized mainly by eyelid, facial and skeletal abnormalities.
  • Blepharoptosis -- cleft palate -- ectrodactyly -- dental anomalies: A rare genetic disorder characterized primarily by dental symptoms, opening in the roof of the mouth (cleft palate) and missing fingers giving the hands a claw like appearance.
  • Brachio-Skeletal-Genital Syndrome: A very rare syndrome described in three siblings of related parents. The offspring had skull, skeletal and genital abnormalities.
  • Brachioskeletogenital syndrome: A rare syndrome characterized by
  • 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.
  • Breath symptoms: Breath-related symptoms including breath odor
  • Breathing symptoms: Symptoms affecting the breathing systems.
  • C-like syndrome: A rare disorder involving poor fetal growth, limb and facial defects and severe developmental delay.
  • CATCH 22: A term used to describe a group of disorders resulting from a deletion on chromosome 22q11 and involving heart and face abnormalities, T cell deficit due to an underdeveloped thymus, cleft palate, low blood calcium due to hypothyroidism. This term tends to include disorders such as Shprintzen syndrome, velocardiofacial syndrome, DiGeorge syndrome and Takao syndrome.
  • CHARGE Syndrome: A rare disorder characterized by choanal atresia, coloboma, ear and genital abnormalities and congenital heart defects.
  • Camera-Marugo-Cohen syndrome: A rare syndrome characterized mainly by mental retardation, muscle weakness, obesity and an asymmetrical body.
  • 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 Syndrome: A rare condition characterized by dwarfism due to bowed shin and thigh bones as well as various craniofacial and other skeletal anomalies.
  • 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.
  • Camptomelic dysplasia I: A rare condition characterized by dwarfism due to bowed shin and thigh bones.
  • Camptomelic dysplasia II: A rare condition characterized by dwarfism due to bowed shin and thigh bones which tend to be shorter and wider than normal.
  • Cardiac malformation, cleft lip-palate, microcephaly and digital anomalies: A newly described syndrome characterized by heart malformations, cleft lip/palate, small head and digital anomalies.
  • Cat's cry: A chromosomal disorder marked by microcephaly, epicanthal folds, micrognathia, strabismus, mental and physical retardation, and a characteristic catlike whine
  • Catel-Manzke Syndrome: A rare genetic disorder characterized by a small jaw, cleft palate and an extra bone at the base of the pointer finger.
  • Cerebro-facio-thoracic dysplasia: A very rare syndrome characterized by mental retardation, spinal and rib defects and facial anomalies.
  • Cerebrocostomandibular Syndrome: A rare genetic disorder characterized by a very small jaw, abnormal rib development and a small thorax as well as other abnormalities.
  • Cervenka's syndrome: A rare syndrome characterized by joint and facial abnormalities as well as nearsightedness and degenerative eye problems.
  • Charlie M syndrome: A rare birth disorder characterized by facial abnormalities and malformed or missing parts of the ends of the arms and legs.
  • Cholestasis -- pigmentary retinopathy -- cleft palate: A rare syndrome characterized by degeneration of retinal pigments, cleft lip, cleft palate, kidney problems and cholestasis (bile flow obstruction).
  • Chondrodysplasia, type Nance-Sweeney: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
  • Christian's syndrome 1: A rare recessively inherited syndrome characterized by premature skull fusion, cleft palate, permanently flexed fingers and various other anomalies.
  • Chromosome 1, 1p36 deletion syndrome: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The symptoms are variable depending on the exact location of chromosomal deletion.
  • Chromosome 1, Partial Trisomy: A rare genetic disorder where part of the genetic material from chromosome 1 is duplicated so there are three copies in the body's cells rather than the normal two copies. The type and severity of symptoms is variable depending on the size and location of the genetic material duplicated.
  • Chromosome 1, deletion q21 q25: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, osteoporosis, facial anomalies and hearing loss.
  • Chromosome 1, duplication 1p21 p32: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as short stature, newborn or fetal death, small head, undescended testes and various facial abnormalities.
  • Chromosome 1, monosomy 1q32 q42: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as fetal or newborn death, facial dysmorphism, short stature, finger defects and various other anomalies.
  • Chromosome 1, monosomy 1q4: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as facial dysmorphism, retarded fetal growth, seizures, mental retardation, testicular problems and kidney defects.
  • Chromosome 1, proximal deletion:
  • Chromosome 1, pter-p36: A very rare chromosomal disorder where the end portion of the short arm of chromosome 1 is missing. The type and severity of symptoms is variable.
  • Chromosome 1, uniparental disomy 1q12 q21: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 10, Monosomy 10p:
  • Chromosome 10, distal trisomy 10q: A rare chromosomal disorder where the distal portion of the long arm of chromosome 10 is duplicated so there is three copies of it instead of the normal two. The condition is characterized by drooping upper eyelid, short palpebral fissures and camptodactyly.
  • 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 deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities.
  • 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 10p terminal deletion syndrome: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
  • Chromosome 11, Partial Trisomy 11q: A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severity of symptoms that can occur are variable.
  • 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 12 trisomy: A rare chromosomal disorder where there are three copies of chromosome 12 rather than the normal two resulting in various abnormalities.
  • Chromosome 12, 12p trisomy: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
  • Chromosome 12, Isochromosome 12p Mosaic: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
  • Chromosome 12p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
  • Chromosome 12p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities.
  • 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 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 13 rather than the normal two resulting in various abnormalities. Most die within months and there are few survivors after 10 years.
  • 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 13p duplication: A rare chromosomal disorder where duplication of a portion of chromosome 13 causes various abnormalities such as mental retardation, short stature, facial dysmorphism, delayed puberty and heart defects.
  • 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 13q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is duplicated resulting in various physical, neurological and developmental abnormalities.
  • Chromosome 14 trisomy: A rare chromosomal disorder involving duplication of genetic material from chromosome 14 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 14 trisomy syndrome: A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities.
  • Chromosome 14, trisomy mosaic: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary between patients.
  • Chromosome 14q, proximal duplication: A rare chromosomal disorder where duplication of a portion of chromosome 14 causes various abnormalities such as facial dysmorphism, limb abnormalities, mental retardation and short stature.
  • Chromosome 15 trisomy: A rare chromosomal disorder involving an extra copy of genetic material from chromosome 15.
  • Chromosome 15q duplication syndrome: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 15q, partial duplication (unbalanced translocation): A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 15q, trisomy: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 16p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 16q, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material. Severe cases often result in spontaneous abortion or infant death.
  • 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 17p, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 17q, partial duplication: A rare chromosomal disorder involving an extra copy 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 duplicated genetic material.
  • Chromosome 18 mosaic monosomy: An extremely rare chromosomal disorder where only some of the body's cells have one copy of chromosome 18 instead of the normal two. The severity and type of symptoms varies depending on how many and which body cells are affected.
  • Chromosome 18, Monosomy 18p: A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material that is missing.
  • Chromosome 18, Tetrasomy 18p: A rare chromosomal disorder where there are four copies of short arm of chromosome 18 instead of the normal two which results in various genital, kidney, digital, head and face abnormalities.
  • Chromosome 18p minus syndrome: A rare genetic disorder where a portion of the genetic material from the short arm of chromosome18 is missing. The symptoms or severity may vary somewhat between patients.
  • 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 19q, partial duplication: A rare chromosomal disorder where the long arm of chromosome is triplicated. The type and severity of symptoms is determined by the size of the duplicated genetic portion.
  • Chromosome 1p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 1p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 1 is duplicated so there is three copies of it rather than the normal two.
  • 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 1q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 1 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 2 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 2 instead of the normal two.
  • Chromosome 2, monosomy 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 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 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 22 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 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, microdeletion 22q11: A rare chromosomal disorder where a portion of the long arm of chromosome 22 is deleted.
  • 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 22q deletion: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 22 is missing. The symptoms or severity may vary somewhat between patients.
  • Chromosome 22q deletion syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities.
  • Chromosome 22q duplication syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is duplicated.
  • Chromosome 22q11 Deletion Spectrum: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
  • Chromosome 22q11 deletion: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
  • Chromosome 22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
  • Chromosome 22q11.2 microduplication: A rare chromosomal disorder where a part of the chromosome 22 genetic material at the q11.2 location is duplicated resulting in various anomalies ranging from mild to severe amongst different patients.
  • 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 3, trisomy 3q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 3 is duplicated so there is three copies of it rather than the normal two. The condition is characterized by mental and growth deficiency, broad nose root and excessive hair growth.
  • Chromosome 3/B translocation: A rare chromosomal disorder involving a translocation of genetic material of chromosome 3.
  • Chromosome 4 Ring: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.
  • Chromosome 4 ring syndrome: A rare chromosomal disorder where the ends of chromosome 4 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size and location of the genetic deletion.
  • Chromosome 4 short arm deletion: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 4, Monosomy 4q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 4 is missing resulting in various abnormalities.
  • Chromosome 4p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 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 6, trisomy 6q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • 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 6q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 7 deletion p15.1-p21.1: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
  • Chromosome 7 ring syndrome: A rare chromosomal disorder where the ends of chromosome 7 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.
  • Chromosome 7, Partial Deletion of Short Arm: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
  • Chromosome 7, partial monosomy 7p: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
  • 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 7, trisomy 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 7p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 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 7q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 7q partial deletion: A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of deleted genetic material.
  • Chromosome 8 recombinant syndrome: A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities.
  • Chromosome 8 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities.
  • Chromosome 8, mosaic trisomy: A very rare chromosomal disorder where there is an extra copy of chromosome 8 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.
  • Chromosome 8, partial trisomy: A rare chromosomal disorder where there are three copies of part of chromosome 8 rather than the normal two which results 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 8, trisomy: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results 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 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, Tetrasomy 9p: A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 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 9, trisomy 9q: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Chromosome 9/mosaic: A rare chromosomal disorder where chromosome 9 is duplicated in some of the body's cells resulting in various abnormalities determined by the type and number of cells that contain the extra genetic material.
  • Chromosome 9p tetrasomy syndrome: A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities.
  • Chromosome 9q duplication: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Chromosome 9q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities.
  • Chromosomes 1 and 2, monosomy 2q duplication 1p: A very rare chromosomal disorder where a portion of chromosome 2q shifts to chromosome 1p resulting in duplication of chromosome 1p and deletion of chromosome 2q. The defect results in various abnormalities including retarded fetal growth, small head and skeletal and facial defects.
  • Cleft Palate and Cleft Lip: A condition involving the association of a cleft lip with a cleft palate.
  • Cleft lip: A condition which is characterized by a congenital cleft of the upper lip
  • Cleft lip -- palate -- abnormal thumbs -- microcephaly: A very rare syndrome characterized by a small head, thumb abnormalities and a cleft lip and palate.
  • Cleft lip -- palate -- ectrodactyly: A very rare syndrome characterized by a cleft lip and palate and missing fingers and toes.
  • Cleft lip -- palate -- mental retardation -- corneal opacity: A very rare syndrome characterized mainly by mental retardation, cleft lip and palate and cloudy corneas.
  • Cleft lip and palate -- malrotation -- cardiopathy: A very rare syndrome characterized by heart defects, malrotated intestines and various facial anomalies.
  • Cleft lip palate -- deafness -- sacral lipoma: A very rare syndrome characterized mainly by an opening in the palate and lip, deafness and a lipoma in the end portion of the spine.
  • Cleft lip palate -- oligodontia -- syndactyly -- pili torti: A very rare syndrome characterized by a cleft lip and palate, webbed fingers, missing teeth and hair abnormality (pili torti).
  • Cleft lip palate incisor and finger anomalies: A rare syndrome characterized by the association of a cleft lip and/or palate and anomalies involving the fingers and front teeth.
  • Cleft lip palate pituitary deficiency: A very rare disorder characterized by a cleft lip and palate as well as deficient pituitary gland activity which affects hormone levels. The clefts and the pituitary abnormality are considered to be midline defects.
  • Cleft lip with or without cleft palate: An oral clefting syndrome where a cleft lip is present with or without a cleft palate.
  • Cleft palate -- cardiac defect -- genital anomalies -- ectrodactyly: A very rare syndrome characterized by variable symptoms including cleft palate, heart defects, genital anomalies and hand and foot malformations.
  • Cleft palate -- coloboma -- deafness: A genetic disorder characterized by a combination of features including cleft palate, coloboma and deafness.
  • Cleft palate -- heart disease -- polydactyly -- absent tibia: A rare syndrome characterized by a cleft palate, heart disease, extra digits and an absent shin bone.
  • Cleft palate -- lateral synechia syndrome: A very rare syndrome characterized by a cleft palate and adhesions of the roof of the mouth to parts of the tongue.
  • Cleft palate -- short stature -- vertebral anomalies: A very rare syndrome characterized by a cleft palate, short stature and abnormalities of the vertebrae in the spine.
  • Cleft palate -- stapes fixation -- oligodontia: A very rare syndrome characterized by an opening in the roof of the mouth (cleft palate, the absence of six or more permanent teeth and hearing loss due to an inner ear abnormality (stapes fixation).
  • Cleft palate cardiac defect ectrodactyly: A very rare syndrome characterized mainly by the association of a cleft palate, heart defect and a hand malformation.
  • Cleft palate colobomata radial synostosis deafness: A very rare syndrome characterized mainly by a cleft palate, fused forearm bone, deafness and colobomata.
  • Cleft palate in children: Cleft palate in children is a term that refers to a child who is born with a gap deformity of the palate.
  • Cleft palate, X-linked: A rare X-linked disorder characterized mainly by a cleft palate.
  • Cleft palate, bilateral choanal atresia, curly hair and congenital hypothyroidism: A rare syndrome characterized by the association of curly, choanal atresia, cleft palate and congenital hypothyroidism.
  • Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss: A rare syndrome characterized mainly by a cleft palate, triangular face, impaired hearing and an underdeveloped midface.
  • Clefting -- ectropion -- conical teeth: A rare birth syndrome characterized by cleft lip and palate, cone-shaped teeth and everted lower eyelids.
  • Collagenopathy, type 2 alpha 1: Collagenopathy, type 2 alpha 1refers to a wide range of conditions that can result from problems with cartilage collagen tissue due to a defect in the COL2A1 gene. Defects in the COL2A1 gene result in defective or reduced collagen production which in turn affects the development of connective tissues including bones. There are a wide range of possible conditions and symptoms. Some of the conditions include: spondyloepiphyseal dysplasia congenita, Stickler Syndrome, hypochondrogenesis and Kneist dysplasia.
  • Coloboma of macula, type B brachydactyly: A rare disorder characterized by congenital macular colobomas and finger and toe abnormalities.
  • Coloboma uveal with cleft lip palate and mental retardation: A very rare syndrome characterized by a cleft lip and palate, mental retardation and a gap or hole in the iris or uvea of the eye (iris or uveal coloboma).
  • Coloboma, cleft lip/palate and mental retardation syndrome: A very rare syndrome characterized by a cleft lip and palate, mental retardation and a gap or hole in the iris or uvea of the eye (iris or uveal coloboma).
  • 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 Diarrhea, Secretory Sodium, Syndromic, 3: A congenital syndrome characterized by diarrhea resulting form a defect in the sodium/hydrogen exchange as well as other variable anomalies. The severity of the condition is variable.
  • Congenital malformations: Physical body or organ malformations existing at birth
  • 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.
  • Contractures -- ectodermal dysplasia -- cleft lip palate: A very rare syndrome characterized by impaired joint mobility at birth, skin problems, cleft lip or palate and growth and psychomotor retardation.
  • Contractures, congenital, torticollis and malignant hyperthermia: A very rare syndrome characterized by contractures, torticollis and a hyperthermic reaction to general anesthetics.
  • Cornelia de Lange Syndrome: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. The severity of symptoms is variable.
  • Cornelia de Lange syndrome 1: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 1 is more severe than type 2 though the range and severity of symptoms is variable.
  • Cornelia de Lange syndrome 2: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 2 is not as severe as type 1 with some of the abnormalities not presenting until later in life or absent altogether. The range and severity of symptoms is variable.
  • Corpus callosum agenesis -- blepharophimosis -- Robin sequence: A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
  • Corpus callosum, agenesis of, blepharophimosis Robin type: A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
  • Cousin Walbrau Cegarra Syndrome:
  • Crane-Heise syndrome: A very rare fatal disorder characterized by numerous abnormalities.
  • Craniofrontonasal Syndrome: A congenital condition with multiple anomalies associated with mental retardation and skeletal disfigurement.
  • Craniofrontonasal dysplasia: A rare genetic disorder mainly found in females and characterized by premature closing of skull bones and craniofacial and limb abnormalities.
  • Craniomicromelic syndrome: A very rare syndrome characterized by skull and facial abnormalities, short arms and legs and retarded fetal growth.
  • Craniosynostosis -- brachysyndactyly of hands and absence of toes: A rare condition characterized mainly by premature fusion of skull bones, limb defects and a cleft lip or palate.
  • Craniosynostosis Maroteaux Fonfria type: A rare disorder which is similar to a condition called Apert syndrome but also involves extra fingers and toes. Apert syndrome is characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally
  • Craniosynostosis arthrogryposis cleft palate: A rare syndrome characterized by the association of craniosynostosis (premature fusion of skull bones), cleft palate and arthrogryposis.
  • Craniosynostosis cleft lip palate arthrogryposis: A rare condition characterized mainly by the association of premature fusion of skull bones (craniosynostosis), cleft lip and/or palate and arthrogryposis.
  • Craniosynostosis mental retardation clefting syndrome: A rare disorder characterized by premature fusion of the skull bones (craniosynostosis), mental retardation a cleft lip and/or palate.
  • Cri-du-chat syndrome: A rare genetic disorder where a small portion of the short arm (p) of chromosome 5 is missing. The condition is characterized by a high-pitched cry which is similar to a cat's cry.
  • Crumpled helices and small mouth: A very rare condition observed in two sibling and characterized by the association of a small mouth and crumpled ear helices.
  • Cystic hygroma, lethal -- cleft palate: A very rare lethal syndrome characterized mainly by cysts that form in the lymphatic system as well as an opening in the palate (cleft palate).
  • Czeizel syndrome: A rare lethal syndrome characterized by cleft palate, uterus abnormalities and omphalocele (protrusion of abdominal organs such as intestine through the navel).
  • Davenport-Donlan syndrome: A very rare syndrome characterized mainly by deafness, white hair, contractures and papillomas.
  • Decreased folate: Decrease in one of the B vitamins required for red blood cell production
  • Deformity symptoms: Various types of deformity
  • Del (2) (p22-p21): 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) (p22.1-p21): 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 (2) (q12-q14): 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 (2) (q21-q24): 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) (q22-q24.2): 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) (q22-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.
  • Del (2) (q23-q34) mosaicism: 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) (q32.1-q34): 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) (q33.1-q33.3): 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 (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 (2) (q35-qter): 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 (2) (q36-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.
  • Del (3) (q12-q22): 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) (q21-q23): 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) (q28-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.
  • Del (4) (pter-p16) and dup (10) (pter-p14): A very rare chromosomal disorder where a portion of the short arm (pter-p16) of the genetic material on chromosome four is missing and a portion on chromosome 10 is duplicated (pter-p14). The type and severity of symptoms can vary depending on the exact size and location of the deleted or duplicated genetic material.
  • Del (4) (pter-p16) and dup (8) (pter-p21): A very rare chromosomal disorder where a portion of the short arm (pter-p16.3) of the genetic material on chromosome four is missing. The type and severity of symptoms can vary depending on the exact size and location of the deleted genetic material. The manifestations are similar to the main features of Wolf syndrome.
  • Del (4) (pter-p16.2): A rare syndrome characterized by the main features of Wolf syndrome which include profound mental retaradation and oral clefting.
  • 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) (q25-q32): A very rare chromosomal disorder where a portion of the long arm (q25-q32) of chromosome one is missing. The range and severity of symptoms is variable.
  • Del(1) (q32-q41): A very rare chromosomal disorder where a portion of the long arm (q32-q41) of chromosome one is missing.
  • Del(1) (q41-q43): A very rare chromosomal disorder where a portion of the long arm (q41-q43) of chromosome one is missing.
  • Del(1) (q41-qter): A very rare chromosomal disorder where a portion of the long arm (q41-qter) of chromosome one is missing. The type and severity of symptoms is variable.
  • Del(1) (q43-qter) & dup (22) (pter-q13): A very rare chromosomal disorder where a portion of the long arm (q43-qter) & dup (22) (pter-q13) of chromosome one is missing. The type and severity of symptoms is variable.
  • Deletion 10pter: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
  • 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 22q11: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
  • Deletion 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Deletion 4p: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Deletion 5p: A rare chromosomal disorder involving deletion of the genetic material from the short arm (p) of chromosome 5 which results in various abnormalities. The resulting condition is often called Cri-du-Chat Syndrome and features may vary somewhat depending on the size and location of the portion of duplicated genetic material.
  • 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.
  • Deletion of the Short Arm of Chromosome 1: A condition characterized by deletion of the short arm of chromosome 1
  • Desbuquois dysplasia: A rare condition characterized by short-limbed dwarfism, characteristic facial features and skeletal abnormalities.
  • Desmosterolosis: A rare condition characterized by abnormal cholesterol biosynthesis where one of the intermediate products of cholesterol synthesis (desmosterol) is deposited in the body (plasma and other tissues). The condition also involves variable congenital anomalies which can be lethal in some cases.
  • Dextrocardia -- microphthalmia -- cleft palate -- intellectual deficit: A rare disorder characterized by small eyes, cleft palate, impaired intelligence and a heart anomaly where the heart is abnormally situated in the right side of the body (dextrocardia).
  • DiGeorge syndrome: 22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid glands which results in lowered immunity low blood calcium levels respectively. Another primary feature is heart defects. Various other variable features are also present. It is not uncommon for patients to have more than one of the 22q11.2 deletion syndrome subtypes which can make diagnosis confusing - other subtypes include Sphrintzen syndrome, Caylor cardiofacial syndrome and CATCH 22.
  • 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.
  • Dilantin -- Teratogenic Agent: There is strong evidence to indicate that the use of Dilantin (anti-seizure medication) during pregnancy may cause 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.
  • Dincsoy-Salih-Patel syndrome: A very rare syndrome characterized mainly by a cleft lip and palate, brain abnormality, short limbs and genital abnormalities.
  • Dionisi-Vici-Sabetta-Gambarara syndrome: A very rare syndrome characterized mainly by brain abnormality, cataract and immunodeficiency.
  • Diprosopia: A very rare syndrome characterized by various facial anomalies, anencephaly and cleft lip and palate.
  • Distal Trisomy 11q: A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severity of symptoms that can occur are variable.
  • 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.
  • Dup (1) (q11-q22): A very rare chromosomal disorder where a portion of the long arm (q11-q22) of chromosome one is duplicated.
  • Dup (1) (q23-qter) and del (3)(pter-p25): A very rare chromosomal disorder where a portion of the long arm (q23-qter) of chromosome one and the short arm of chromosome 3 (pter- p25) is duplicated. In the reported case, the infant died soon after birth.
  • 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) (p21-p12): 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) (p23-p14): 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) (p25-p21): 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) (pter-p12): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case (fetus). The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (2) (pter-p13)): 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 though early death is quite common.
  • Dup (2) (pter-p21) and dup (21) (pter-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.
  • Dup (2) (q11.2-q13): 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) (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) (q32-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) (p26-p21) and del (3) (pter-p26): 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) (p26-p21.3) and del (3) (pter-p26): 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) (pter-p14): 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) (pter-p21) and del (18p): 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-p24): 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) (pter-p24) and del (4) (pter-p16): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in six 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) (q12-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) (q21-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in fourteen reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (3) (q24-q26): 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-q27): 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 (3) (q25-qter) and del (13) (q32-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported fetal case. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (3) (q27-qter) and dup (14) (pter-q12): 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(1) (p31-p11): A very rare chromosomal disorder (one reported case) where a portion of the short arm (p31-p11) of chromosome one is duplicated. The type and severity of symptoms is variable.
  • 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.
  • Dup(1) (p35-p31): A very rare chromosomal disorder where a portion of the short arm (p35-p31) of chromosome one is duplicated. The reported case resulted in death at 6 weeks of age.
  • Dup(1) (q24-q31.2): A very rare chromosomal disorder where a portion of the long arm (q24-q31.2) of chromosome one is duplicated. In the reported case, death occurred within hours of birth.
  • 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 12p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
  • Duplication 13: A rare and very severe chromosome disorder leading to mental retardation and physical defects. It is so severe that many babies die soon after birth. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is 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 6q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • 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.
  • Duplication 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Dysgnathia complex: A very rare disorder characterized by a small or absent jaw, ear abnormalities and a small mouth and tongue. The severity and range of symptoms is variable.
  • Dysmorphism -- cleft palate -- loose skin: A very rare syndrome characterized mainly by facial abnormalities, an opening in the roof of the mouth and loose skin.
  • Dysraphism -- cleft lip palate -- limb reduction defects: A very rare syndrome characterized mainly by an abnormal opening in the lip and palate, forearm abnormalities, spinal cord defects and an abnormal abdominal opening allowing the abdominal contents to protrude.
  • ECP syndrome: A rare malformation syndrome characterized by a cleft palate and missing fingers.
  • Ectodermal dysplasia -- mental retardation -- CNS malformation: A rare syndrome characterized mainly by mental retardation, central nervous system disorders and skin, hair and nail abnormalities.
  • Ectodermal dysplasia, Margarita type: A rare genetic disorder characterized by mental retardation, webbed digits, cleft lip, cleft palate, sparse hair, reduced sweating and teeth abnormalities. Progressive loss of scalp hair usually results in baldness by adulthood.
  • Ectodermal dysplasia, hypohidrotic, autosomal dominant: A very rare inherited disorder that affects the development of skin, hair, nails, teeth and sweat glands during the fetal stage.
  • Ectrodactyly -- Ectodermal Dysplasia -- Cleft Lip/Palate Syndrome, Type 1: EEC (Ectrodactyly, ectodermal dysplasia, cleft lip/palate) is a rare inherited condition characterized by split hand and foot deformities of variable severity, cleft lip or palate and teeth and hair anomalies. There are two main types of EEC which differ in the origin of the genetic defect. Type 1 is caused by a defect on chromosome 7q11. The severity and type of symptoms and deformities is highly variable.
  • Ectrodactyly -- Ectodermal Dysplasia -- Cleft Lip/Palate Syndrome, Type 3: EEC (Ectrodactyly, ectodermal dysplasia, cleft lip/palate) is a rare inherited condition characterized by split hand and foot deformities of variable severity, cleft lip or palate and teeth and hair anomalies. There are two main types of EEC which differ in the origin of the genetic defect. Type 3 is caused by a defect on chromosome 3q27. The severity and type of symptoms and deformities is highly variable.
  • Ectrodactyly cleft palate syndrome: A rare malformation syndrome characterized by a cleft palate and missing fingers.
  • Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate: A rare inherited condition characterized by abnormalities of the fingers, toes, hair, glands, eyes anr urinary tract.
  • 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.
  • Elliott-Ludman-Teebi syndrome: A rare syndrome characterized by excessive skin folds on the limbs and back, psychomotore retardation, hernia and various other abnormalities.
  • Ellis -van creveld syndrome:
  • Ellis-Yale-Winter syndrome: A rare condition characterized by the association of a small head, congenital heart disease, lung segmentation defects and a missing kidney.
  • Ellis-van Creveld syndrome:
  • 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.
  • Endocrine-Cerebroosteodysplasia: A rare condition observed in six members from two families. The condition is severe with all affected individuals dying before, during or soon after birth. A number of the pregnancies were voluntarily terminated due to the detected malformations. Endocrine-Cerebroosteodysplasia primarily involves brain, skeletal and endocrine abnormalities.
  • Engelhard-Yatziv syndrome: A rare syndrome characterized mainly by droopy eyelids, small head and finger and toe abnormalities.
  • 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.
  • Eye defects -- arachnodactyly -- cardiopathy: A rare syndrome characterized mainly by eye defects, long, thin fingers and heart disease.
  • Face symptoms: Symptoms affecting the face
  • Facial clefting corpus callosum agenesis: A rare syndrome characterized by the association of facial clefts with a brain defect where the structure between the two halves of the brain (corpus callosum) fails to develop. Symptoms may vary somewhat depending on how much of the corpus callosum is missing and the extent of the facial clefting.
  • Faciocardiorenal syndrome: A rare syndrome characterized by a variety of abnormalities such as kidney anomaly, mental retardation, unusual facial features, heart problems and joint problems. Infant death or stillbirth may occur in some cases.
  • Familial Treacher Collins syndrome: Treacher Collins syndrome is a rare inherited disorder characterized by down-slanting eye slits, malformed external ear, abnormal lower eyelid and underdeveloped cheeks. In the familial form, the condition tends to occur in a number of people within a family. The severity of the condition is variable.
  • 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.
  • Fernhoff-Blackston-Oakley syndrome: A very rare syndrome characterized mainly by retarded fetal growth and jaw anomaly as well as various other abnormalities.
  • Fetal Hydantoin Syndrome: A rare disorder caused by fetal exposure to phenytoin (anticonvulsant drug) and resulting in various abnormalities.
  • Fetal alcohol syndrome: A condition which occurs in a new born fetus and is caused by the mother consuming excess alcohol during her pregnancy
  • Fibrochondrogenesis: A rare genetic disorder characterized by short stature, abnormal bone formation and stillbirth or neonatal death.
  • Filippi Syndrome: A very rare disorder involving finger and toe abnormalities, a small head, characteristic face and physical and mental retardation. The number of digits involved and extent of webbing between digits is variable as are many of the other features.
  • Fine-Lubinsky syndrome: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
  • Foramina parietalia permagna: A rare disorder involving abnormal bone development of the skull resulting in persistent wide fontanelles (cranium bifidum) as well as a scalp defect and other abnormalities.
  • Franceschetti-Klein syndrome: A rare genetic disorder characterized by malar hypoplasia, down-slanting eye slits, defect of lower eye lid and malformation of external ear.
  • Franceschini-Vardeu-Guala syndrome: A very rare disorder characterized by premature puberty, lower lip pits and Kabuki syndrome. Kabuki syndrome is a mental retardation syndrome which also involves a range of physical abnormalities.
  • Fraser Syndrome: A rare disorder characterized by the absence of one or both eyes as well as any of a number of other possible congenital abnormalities. Up to half of cases are stillborn.
  • Fraser-like syndrome: A very rare syndrome characterized by fused eyelids, airway anomalies, cysts in the ovaries and finger and toe abnormalities.
  • Fronto-facio-nasal dysplasia: A very rare disorder involving skull and facial abnormalities.
  • Frontofacionasal dysplasia type Al gazali: A very rare disorder involving various serious facial abnormalities.
  • Frontonasal dysplasia: A very rare disorder involving head and face abnormalities primarily due to a groove down the midline of the face which may affect parts or all of the face.
  • Froster-Iskenius-Waterson syndrome: A rare syndrome characterized by multiple joint contractures at birth, hyperthermia and twisting of neck muscles.
  • Fryns Syndrome: A rare genetic disorder characterized by diaphragmatic abnormalities, coarse face and abnormal growth or development of ends of fingers and toes.
  • Furlong-Kurczynski-Hennessy syndrome: A very rare syndrome characterized by the association of premature fusion of skull bones with Marfanoid features. The disorder arises from abnormal connective tissue.
  • Gene-Wiedemann syndrome: An extremely rare birth disorder characterized by mental retardation and a variety of physical defects.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • German syndrome: A rare disorder caused by fetal exposure to trimethadione (anticonvulsant drug) and resulting in various physical and developemental abnormalities.
  • Gollop syndrome: A rare syndrome characterized mainly by eye, ear, facial and nasal abnormalities.
  • Gonadal dysgenesis XY type associated anomalies: A very rare syndrome characterized mainly by a large range of variable physical abnormalities and gonad anoamlies.
  • Gordon Syndrome: A genetic musculoskeletal disorder characterized mainly by camptodactyly, cleft palate and club foot. The type and severity of symptoms is variable.
  • Grix-Blankenship-Peterson syndrome: A very rare syndrome characterized mainly by mental retardation, bone defects and head and face abnormalities.
  • Grob syndrome: A rare disorder characterized by a partial lack of hair, epicanthus, cleft lip and palate, mental deficiency, short fingers and various other anomalies.
  • Growth Retardation, Developmental Delay, Coarse Facies and Early Death: A rare syndrome observed in a family involving related parents and characterized mainly by retarded growth, developmental delay, coarse facial appearance and early death.
  • Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate: A rare syndrome characterized mainly by mental retardation, retarded growth, small head, cleft palate and facial abnormalities.
  • Growth delay -- mental retardation -- mandibulofacial dysostosis -- microcephaly -- cleft palate: A rare syndrome characterized by delayed growth, mental retardation, small head, cleft palate and facial and jaw anomaly.
  • Hajdu-Cheney Syndrome: A rare genetic disorder characterized by early tooth loss, relaxed joints, small stature and bone abnormalities.
  • Halal syndrome: A very rare syndrome characterized mainly by a small head and a cleft palate.
  • Hanhart syndrome type III: A rare genetic disorder characterized by hand and foot deformities, small jaw, small tongue, mental retardation and a cleft palate.
  • Hardikar syndrome: A very rare disorder characterized by obstructive liver disease, cleft lip, cleft palate, eye and urogenital abnormalities.
  • Harper dwarfism: A rare inherited disorder involving a range of abnormalities. It is a variant of the Seckel syndrome.
  • Haspeslagh Fryns Muelenaere syndrome: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
  • Hay-Wells Syndrome: A rare genetic disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate.
  • Hay-Wells syndrome, recessive type: A rare recessively inherited genetic disorder characterized by ankyloblepharon, ectodermal dysplasia, and cleft lip and/or cleft palate. The recessive form of this condition is distinguished by the presence at birth of adhesions between the upper and lower jaws.
  • Head symptoms: Symptoms affecting the head or brain
  • Herrmann Opitz arthrogryposis syndrome: A very rare syndrome characterized mainly by contractures, skeletal abnormalities and short stature.
  • Herrmann-Opitz craniosynostosi: A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and an unusual facial appearance.
  • Hirschsprung -- microcephaly -- cleft palate: A rare disorder characterized by the association of Hirschsprung megacolon, a small head and a cleft palate.
  • Ho Kaufman-Mcalister syndrome: A rare congenital disorder characterized by congenital heart disease, skeletal abnormalities and a cleft palate.
  • Holoprosencephaly: A rare disorder where abnormalities of the fetal forebrain development lead to various birth defects.
  • Holoprosencephaly -- caudal dysgenesis: A very rare syndrome where the tailbone and the portion above the tailbone (coccyx and sacrum) fail to develop. The brain also fails to divide into two lobes resulting in a single-lobed brain
  • Holoprosencephaly -- ectrodactyly -- cleft lip/palate: A very rare syndrome characterized mainly by a cleft hand, lip and/or palate and the failure of the brain to separate into two lobes.
  • Holoprosencephaly deletion 2p: A very rare syndrome characterized mainly by the failure of the brain to separate into two lobes, facial deformities and various other anomalies.
  • Holzgreve-Wagner-Rehder syndrome: A rare genetic disorder characterized by extra fingers, cleft palate, heart abnormalities, growth retardation and various other anomalies.
  • Howard-Young syndrome: A very rare syndrome characterized mainly by a small head, facial cleft and an extra big toe.
  • Hunter-Carpenter-Macdonald syndrome: A very rare syndrome characterized by various abnormalities including small head, facial anomalies, mental retardation and hair, skin and nail anomalies. Fetal exposure to alcohol is believed to be a factor in the syndrome.
  • Hurst-Hallam-Hockey syndrome: A group of malformation described in a stillborn infant. Defects include leptomeningeal angiomatosis (abnormal blood vessels in sheath surrounding brain and spinal cord), heart disease, cleft lip and palate and brain abnormalities.
  • Hydrolethalus syndrome: A rare genetic disorder characterized by hydrocephalus, micrognathia and polydactyly.
  • Hypertelorism -- esophageal abnormalities -- hypospadias: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosomal dominant manner. Females with the X-linked form of the condition tend to have few symptoms and often only have wide set eyes.
  • Hypertelorism with esophageal abnormality and hypospadias: A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
  • Hyperthermia induced defects: A rare disorder where hypothermia during pregnancy results in infant abnormalities involving growth, development and brain dysfunction.
  • Hypomandibular faciocranial dysostosis: A very rare syndrome characterized mainly by very underdeveloped upper and lower jaw as well as a very small, absent or small tongue.
  • Hypomelanosis of Ito: A rare genetic neurocutaneous disorder characterized by unusual patterns of depigmented skin and associated disorders such as seizures, psychomotor retardation and eye abnormalities.
  • Hypopituitarism -- micropenis -- cleft lip palate: A very rare syndrome characterized mainly by low pituitary hormone level, small penis and a cleft lip and palate.
  • Hypospadias -- hypertelorism: A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
  • Hypotelorism -- cleft palate -- hypospadias: A very rare syndrome characterized mainly by an abnormally placed urethral opening, cleft palate and close set eyes.
  • Hypothyroidism -- cleft palate: A rare syndrome characterized mainly by the association of an abnormal opening in the roof of the mouth and reduced thyroid functioning.
  • Hypothyroidism -- dermoid cyst -- cleft palate: A rare syndrome characterized by primary hypothyroidism, dermoid cyst, cleft palate and other abnormalities.
  • Iida-Kannari syndrome: A rare congenital disorder characterized by joint contractures, scoliosis, cleft palate, abnormal ears and premature fusion of skull bones.
  • 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.
  • Iniencephaly: A rare type of neural tube defect where the head is positioned in a backward bent angle and the spine is malformed.
  • Isotretinoin embryopathy like syndrome: A very rare syndrome which causes the same abnormalities and deformities that occur in fetal exposure to maternal use of isotretinoin.
  • Johnson-Hall-Krous syndrome: A rare congenital disorder characterized by cataracts, cleft palate, high nose bridge, extra finger and tongue abnormalities.
  • Jones-Hersh-Yusk syndrome: A rare congenital disorder characterized by missing toes, cleft palate, blistered skin and absent patches of skin at birth.
  • Joubert Syndrome: A rare neurological disorder where there is a defect in the part of the brain that controls coordination and balance.
  • Juberg-Hayward syndrome: A rare hereditary disorder characterized by a growth hormone deficiency as well as mouth and limb abnormalities.
  • Juvenile-onset dystonia: A rare form of progressive dystonia that starts early in life - first or second decade. Dystonia is prolonged involuntary muscle spasms or contractions. Various other physical abnormalities are also present and severe hearing loss usually occurs by the middle of the first decade. In the two reported cases, death occurred early in the third decade.
  • Kabuki syndrome: A rare genetic disorder characterized by distinctive facial features.
  • Kallmann Syndrome: A rare inherited condition characterized by hypogonadism, eunuchoidism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance.
  • Kallmann Syndrome 5: A rare inherited condition characterized by hypogonadism, eunuchoidism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. The symptoms and their severity may be somewhat variable. Type 5 is linked to a defect on chromosome 8q12.1.
  • Kallmann Syndrome 6: A rare inherited condition characterized by hypogonadism, eunuchoidism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. The symptoms and their severity may be somewhat variable. Type 6 is linked to a defect on chromosome 10q24.
  • Kaplan-Plauchu-Fitch syndrome: A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities.
  • Kapur-Toriello syndrome: A rare disorder characterized by severe mental retardation, cleft lip, cleft palate, long columella (tissue that separates the nostrils) and eye, heart and intestinal abnormalities.
  • Klippel Feil Syndrome: A rare congenital disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable.
  • Klippel Feil deformity conductive deafness absent vagina: A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
  • Klippel-Feil syndrome recessive type: A rare recessively inherited disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable.
  • Klippel-Feil syndrome, dominant type: A rare dominantly inherited disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable.
  • Kniest dysplasia: A rare genetic bone growth disorder characterized by dwarfism, enlarged joints and facial deformities.
  • Korula-Wilson-Salomonson syndrome: A very rare disorder characterized mainly by a cleft lip and palate and incomplete closure of the eyelids.
  • Krieble Bixler syndrome: A rare inherited syndrome characterized by blepharphimosis and various congenital anomalies involving the limbs, heart, ear and face.
  • Kunze riehm syndrome: A rare birth malformation characterized by excessive folded skin and characteristic skin lesions (lipomatous nevus).
  • Kuster syndrome: A very rare congenital disorder characterized by a cleft lip, cleft palate, lip pits, and deformed limbs.
  • 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.
  • Larsen syndrome: A rare genetic disorder characterized by multiple joint dislocation, a flat face and short fingernails.
  • Larsen syndrome, dominant type: A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual dish-shaped face. The dominant form tends to have less severe dwarfism and more severe flattening of the face and is less likely to include webbed fingers, cleft palate and genital anomalies than the recessive form.
  • Larsen syndrome, recessive type: A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual face.
  • Larsen-like syndrome, lethal form: A very rare lethal syndrome characterized mainly by joint dislocations and breathing problems due to respiratory system abnormalities. The condition is a manifestation of abnormal collagen formation.
  • Larsen-like syndrome, lethal type: A very rare lethal syndrome characterized mainly by joint dislocations and breathing problems due to respiratory system abnormalities.
  • Lathosterolosis: A very rare disorder where an enzyme (sterol C5-desaturase) deficiency prevents the normal synthesis of cholesterol in the body. The deficiency causes various malformations, mental retardation and liver disease.
  • Lethal chondrodysplasia, Moerman type: A very rare lethal syndrome characterized mainly by abnormal bone development.
  • Limb-mammary syndrome: A rare syndrome characterized by abnormalities of the hand and/or foot as well as absent or underdeveloped mammary glands and nipples. The severity of the deformity is variable. Tooth, nail and sweat gland abnormalities may also be present.
  • Lip symptoms: Symptoms affecting one or both lips.
  • Loeys-Dietz syndrome: A very rare syndrome characterized mainly by a bulge in the aorta (aneurysm), wide set eyes, cleft palate, divided uvula and twisted arteries.
  • Lowry syndrome: A rare disorder characterized by the premature fusion of skull bones, absent or defective lower leg bone (fibula) and various other abnormalities.
  • Lowry-Maclean syndrome: A very rare syndrome characterized mainly by mental retardation, retarded growth, glaucoma, congenital heart defects and premature fusion of skull bones.
  • Lymphoedema -- cleft palate: A rare inherited condition characterized by the association of a cleft palate and tissue swelling (mainly involving the legs) occurs because of blockage of lymph drainage system.
  • MURCS Association: A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
  • Macrosomia with lethal microphthalmia: A very rare syndrome characterized mainly by very small eyes and a large body size at birth.
  • Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive: A rare, recessively inherited disorder characterized mainly by eye, face, mouth, ear and skull abnormalities.
  • 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.
  • Marshall syndrome: A rare genetic disorder characterized by a distinctive face and vision and hearing impairment.
  • Mayer-Rokitansky-Kuster-Hauser, syndrome, type 2 (MRKH type 2): A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
  • McGillivray syndrome: A very rare syndrome characterized mainly by heart defects, skull and facial abnormalities and ambiguous genitalia.
  • Meckel Syndrome: A rare genetic disorder involving numerous abnormalities and characterized by death within the first few weeks.
  • Meckel syndrome, type 5: A very rare lethal syndrome characterized mainly by kidney and liver abnormalities, extra fingers and a gap in the back of the skull through which some brain matter protrudes. Type 5 is caused by a defect in the RPGRIP1L gene on chromosome 16q12.2.
  • Mefloquine -- Teratogenic Agent: There is evidence to indicate that exposure to Mefenamic Acid 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.
  • Megarbane-Loiselet syndrome: A rare syndrome characterized mainly by deafness and branchial anomalies.
  • Meningeal angiomatosis -- cleft hypoplastic left heart: A very rare genetic disorder characterized by an underdeveloped left heart and abnormal brain development.
  • 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 retardation -- hypotonic facies syndrome, X-linked, 1: A group of rare syndromes characterized by severe mental retardation, unusual facial appearance and other variable abnormalities.
  • Mental retardation -- short stature -- cleft palate -- unusual facies: A very rare syndrome characterized mainly by short stature, mental retardation, cleft palate and facial anomalies.
  • Mental retardation -- short stature -- deafness -- genital: A very rare syndrome characterized mainly by mental retardation, short stature, deafness and genital abnormalities.
  • 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, Smith-Fineman-Myers type: A rare inherited disorder characterized mainly by mental retardation and low facial muscle tone.
  • Mental retardation, Wolff type: A very rare syndrome characterized mainly by severe mental retardation and facial anomalies. The parents came from the same bloodline.
  • Mental retardation, X-linked, Armfield type: A rare disorder characterized by mental retardation, seizures, short stature, small hands and small feet. The disorder is X-linked and hence only males exhibit the symptoms. The genetic defect occurs on chromosome Xq28.
  • Mental retardation, X-linked, Reish type: A rare disorder characterized by mental retardation, brain anomalies, skeletal malformations, intestinal problems, eye and ear anomalies, cleft palate and kidney abnormalities. Some infants with the disorder die soon after birth due to breathing problems. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
  • Mental retardation, X-linked, Siderius type: A rare inherited form of mental retardation involving a defect on chromosome Xp11.2.
  • 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.
  • Michelin Tire Baby Syndrome: A rare birth malformation characterized by excessive folded skin and characteristic skin lesions (lipomatous nevus).
  • Michelin tyre baby syndrome: A rare birth malformation characterized by excessive folded skin and characteristic skin lesions (lipomatous nevus).
  • Microcephaly -- facial clefting -- preaxial polydactyly: A very rare condition characterized by the presence of an abnormally small head, facial clefts and extra digits.
  • Microcephaly -- microphthalmia -- ectrodactyly of lower limbs -- prognathism: A rare syndrome characterized by small eyes, small head, missing toes and a protrucing jaw.
  • Microcephaly immunodeficiency lymphoreticuloma: A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. There are a wide range of other abnormalities and symptoms that can occur.
  • Microcephaly, corpus callosum dysgenesis and cleft lip-palate: A rare disorder characterized by a small head, abnormal brain development and a cleft lip and palate.
  • Microphthalmia syndromic, type 8: A rare syndrome characterized by small eyes, small head, missing toes and protruding jaw.
  • Microphthalmia syndromic, type 9: A rare inherited disorder characterized by small or absent eyes and lung, heart and diaphragmatic abnormalities. The disorder is caused by a defect on the STRA6 gene.

Conditions listing medical symptoms: Cleft palate:

The following list of conditions have 'Cleft palate' 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.

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Conditions listing medical complications: Cleft palate:

The following list of medical conditions have 'Cleft palate' or similar listed as a medical complication in our database.

 

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