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Symptoms » Vertebra symptoms » Glossary
 

Glossary for Vertebra symptoms

Medical terms related to Vertebra symptoms or mentioned in this section include:

  • 1q terminal deletion: A rare chromosomal disorder where the terminal part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities.
  • 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.
  • 47,XXX syndrome: A genetic condition where females have an extra X chromosome in each of their cells. Normally female cells have two X chromosomes. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic.
  • 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.
  • AREDYLD: A rare condition characterized by abnormalities of the extremities, teeth, hair, nail and kidney as well as lipoatrophic diabetes.
  • 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.
  • Achondroplasia: A rare disease characterized by abnormal bone growth which results in short stature with short arms and legs, large head and characteristic facial features.
  • Acrodysostosis: A rare genetic disorder characterized by short hands, small nose, mental deficiency and hand and foot deformities.
  • Acrodysplasia scoliosis: A rare inherited genetic disorder characterized by short fingers and toes, scoliosis and other spine anomalies.
  • Acrofacial dysostosis, Palagonia type: One of a group of disorders characterized by defective limb and facial development. The Palagonia type is very rare and the symptoms are relatively mild.
  • Acromesomelic dysplasia Hunter Thompson type: A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones.
  • Acromesomelic dysplasia, Maroteaux type: A rare genetic syndrome characterized by various developmental abnormalities of the skeletal bones and facial anomalies.
  • Acropectorovertebral dysplasia: A rare inherited genetic disorder characterized by abnormalities involving the fingers, toes, palate and chest bones.
  • Acrorenal mandibular syndrome: A very rare condition characterized by a split hand or foot deformity, kidney abnormalities and underdeveloped lower jaw.
  • Agenesis of the corpus callosum -- mental retardation -- coloboma -- micrognathia: A rare inherited disorder characterized by mental retardation, coloboma, small jaw and a brain anomaly.
  • Aicardi syndrome: A rare genetic disorder where the structure connecting the two halves of the brain fails to develop which results in seizures and eye abnormalities .
  • Akaba-Hayasaka syndrome: A very rare syndrome characterized mainly by a prominent forehead, cloudy corneas, low nasal bridge, underdeveloped chest and short limbs.
  • Akesson syndrome: A very rare syndrome characterized by excessive skin folds and furrows on the scalp, mental retardation the failure of the thyroid to develop.
  • Allain Babin Demarquez syndrome: A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension.
  • Alves Castelo dos Santos syndrome: A rare syndrome characterized by hair, eye, skin and spinal abnormalities.
  • Amastia, bilateral, with ureteral triplication and dysmorphism: A very rare disorder characterized mainly by the absence of both breasts, triplicated ureters (normally they are duplicated), facial anomalies and various other defects.
  • Amnion rupture sequence: A rare disorder where the amniotic sac is ruptured resulting in various abnormalities.
  • Anauxetic dysplasia: A rare disorder characterized by abnormal skeletal and spinal development.
  • Angiokeratoma -- mental retardation -- coarse face: A rare inherited genetic syndrome characterized by mental retardation, coarse facial features and capillary hemangiomas.
  • Anophthalmia -- megalocornea -- cardiopathy -- skeletal anomalies: A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities.
  • 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.
  • Aphalangy -- hemivertebrae -- urogenital-intestinal dysgenesis: A rare congenital disorder characterized by missing fingers and toes, abnormal vertebrae and various malformations of the organs.
  • Arakawa's syndrome 2: An inherited metabolic disorder where an enzyme deficiency (methionine synthase) causes mental and physical retardation, blood disorders, degeneration of brain tissue and various other symptoms.
  • Arthritis -- short stature -- deafness: A very rare syndrome characterized by arthritis, short stature, deafness and numerous other abnormalities.
  • Arthrogryposis -- severe scoliosis: A rare disorder characterized by severe scoliosis and permanent flexion of muscles in the ends of the limbs. Other variable features may alsobe present.
  • Arthrogryposis distal type II: A very rare syndrome characterized by permanent flexion of the fingers as well as other birth defects.
  • Arthrogryposis due to muscular dystrophy: A rare disorder where a non-progressive muscle disease results in the presence of multiple joint contractures at birth.
  • Arthrogryposis multiplex congenita -- pulmonary hypoplasia: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
  • Arthrogryposis multiplex congenita type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
  • Arthrogryposis multiplex congenita, distal, X-linked: A rare condition characterized by the presence of contractures at birth as well as various other anomalies. The condition is X-linked.
  • Arthrogryposis, distal, type 2A: A form of distal arthrogryposis (joint contractures in ends of limbs) that involves additional symptoms such as facial and spinal anomalies.
  • Arthrogryposis, distal, type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
  • Arthropathy, progressive pseudorheumatoid, of childhood: A form of progressive rheumatoid arthritis that affects children.
  • Ashley syndrome: A rare syndrome characterized mainly by an unusual facial appearance and muscle and skeletal abnormalities.
  • Asymmetric short stature syndrome: A rare disorder characterized mainly by short stature, unequal leg lengths and facial anomalies.
  • Athabaskan severe combined immunodeficiency: A severe immunodeficiency disorder found in Navajo and Apache populations.
  • Aural atresia -- multiple congenital anomalies -- mental retardation: A rare syndrome characterized by a number of malformations as well as mental retardation.
  • Axenfeld-Rieger anomaly -- hydrocephaly -- skeletal abnormalities: A rare syndrome characterized mainly by skeletal abnormalities, excess fluid inside the skull and eye anomalies.
  • Back symptoms: Symptoms affecting the back
  • Bannayan-Zonana syndrome: A rare genetic disorder characterized by macrocephaly, intestinal polyposis, pigmentation of penis and benign tumor-like growths.
  • Baraitser burn fixen syndrome: A rare syndrome characterized mainly by skeletal abnormalities, a skin disorder and an expressionless face.
  • Bartenwerfer syndrome: A rare disorder characterized by dwarfism and facial and skeletal abnormalities. The disorder is a variant of Morquio disease.
  • Battaglia Neri syndrome: A very rare syndrome characterized by mental retardation, small head, epilepsy, coarse facial features and skeletal anomalies. Only two reported cases of this syndrome.
  • Bd syndrome: A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.
  • Beals syndrome: A rare genetic connective tissue disorder characterized by joint contractures, arachnodactyly and a crumpled appearing ear.
  • Becker nevus syndrome: A rare disorder characterized by a pigmented hairy skin patch associated with skin, muscle or bone defects on the same side of the body as the skin lesion.
  • Bentham-Driessen-Hanveld syndrome: A rare syndrome characterized mainly by the association of undescended testes, long thin fingers and mental retardation.
  • Berk-Tabatznik syndrome: A rare condition characterized by eye and skeletal problems.
  • Beta-ureidopropionase deficiency: A metabolic disorder where the deficiency of an enzyme (Beta-ureidopropionase) results mainly in neurological abnormalities such as mental retardation. The symptoms are variable however.
  • Bone dysplasia Moore type: A rare disorder characterized by abnormally bowed long bones. The bowed bones may be symmetrical or asymmetrical. The condition has only been observed in two siblings and is believed to be a previously undescribed disorder.
  • Bone symptoms: Symptoms affecting the body's bones
  • Borjeson Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.
  • Borjeson-Forssman-Lehmann Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.
  • Borrone-Di Rocco-Crovato syndrome: A rare progressive syndrome characterized by skin, heart and skeletal defects. Only several reported cases of the condition.
  • Bowing, congenital, short bones: A rare syndrome characterized mainly by broad, bowed bones affecting mainly the thigh bone and upper arm bones.
  • Brachydactyly -- tibial hypoplasia: A rare syndrome characterized by short digits and an underdeveloped or absent shin bone.
  • Brachyolmia: A syndrome characterized mainly by short trunk dwarfism. There are several different subtypes, each with different additional features.
  • Buntinx-Lormans-Martin syndrome: A very rare syndrome characterized mainly by eye anomalies and fusion of the forearm bones.
  • CAMFAK syndrome: A rare syndrome characterized by cataracts, small head, failure to thrive and spinal curvature.
  • CDG syndrome type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • Campomelic dwarfism: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
  • Campomelic dysplasia: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
  • Camptodactyly -- fibrous tissue hyperplasia -- skeletal dysplasia: A rare syndrome characterized by a hand deformity and skeletal abnormalities.
  • Camptodactyly syndrome, Guadalajara type 1: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed fingers as well as other abnormalities such as short toes, short neck and a small head.
  • Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia: A rare syndrome characterized by a hand deformity and skeletal abnormalities.
  • Camptodactyly, tall stature, and hearing loss syndrome: A rare syndrome characterized mainly by camptodactyly, tall stature and hearing loss. The hearing loss starts at birth or during infancy and progresses during childhood resulting in mild to severe hearing impairment.
  • Camurati-Engelmann Disease: A very rare genetic disease thickening of areas of bone causing pain, weakness and wasting. Usually affects the legs during childhood. Also called diaphyseal dysplasia.
  • Cantu Sanchez-Corona Garcia-cruz syndrome: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
  • Carbohydrate deficiency glycoprotein syndrome type II: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2 is caused by a genetic defect which involves the gene for a particular enzyme (Golgi localized N-acetyl-glucosaminyltransferase II). Type 2 tends to have more severe psychomotor retardation than type 1 but there is no peripheral neuropathy or underdeveloped cerebellum.
  • Cardiomyopathy cataract hip spine disease: A rare genetic disorder characterized by heart muscle disease, cataracts and hip and spinal problems.
  • Cartilage Hair Hypoplasia: An inherited disorder characterized by short-limb dwarfism as well as hair that is short, fine, brittle and often light colored.
  • Cartilage-hair hypoplasia-like syndrome: A rare syndrome characterized by thin hair shafts, short stature, short limbs and other skeletal abnormalities. The condition is identical to the skeletal abnormality component of cartilage-hair hypoplasia syndrome.
  • Cat Eye Syndrome: A rare chromosomal disorder involving abnormalities of chromosome 22 and characterized by coloboma of the iris, down-slanting palpebral fissures and anal atresia.
  • Cat's cry: A chromosomal disorder marked by microcephaly, epicanthal folds, micrognathia, strabismus, mental and physical retardation, and a characteristic catlike whine
  • Caudal duplication: A rare disorder where some of the embryonic tissues that develop into the lower spine, genitalia and lower abdominal organs are duplicated - probably due to the incomplete separation of twins arising from one egg. The range of possible defects is extensive but often they are able to be surgically corrected and a relatively normal life is possible.
  • Cerebellar ataxia, X-linked: A disorder where degeneration of certain parts of the brain results in symptoms such as ataxia. The rate of progression can vary.
  • Cerebellar atrophy with progressive microcephaly: A very rare disorder characterized mainly by a small brain, small head, underdeveloped brain, brain degeneration, contractures, eye problems and seizures.
  • Cerebelloparenchymal autosomal recessive disorder 3: A rare, recessively inherited disorder characterized mainly by albinism, incoordination, low muscle tone and eye problems.
  • Charcot-Marie-Tooth disease, Type 2K: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2K has an autosomal dominant inheritance and involves a defect on chromosome 8.
  • Charcot-Marie-Tooth disease, Type 4C: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4B2 has an autosomal recessive inheritance and involves a defect in the KIAA1985 gene on chromosome 5. It involves motor and sensory problems as well as scoliosis.
  • Charcot-Marie-Tooth disease, Type 4F: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4F has an autosomal recessive form of inheritance and is a severe form of the disease. It involves a defect in the PRX gene on Chromosome 19q13.
  • Charcot-Marie-Tooth disease, Type 4H: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4H has an autosomal recessive form of inheritance and involves a defect on Chromosome 11.
  • Charcot-Marie-Tooth disease, type 4: A rare group of demyelinating motor and sensory neuropathies consisting of a number of subtypes. The various subtypes are caused by different genetic defects.
  • Charcot-Marie-Tooth, demyelinating, autosomal recessive: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4 has an autosomal recessive form of inheritance and is a severe form of the disease.
  • Chitayat-Moore-Del Bigio syndrome: A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies.
  • Chondrodysplasia punctata lethal neonatal: A rare skeletal disorder which results in the infant's death before or soon after birth. Symptoms include a variety of severe skeletal abnormalities and an enlarged head.
  • Chondrodysplasia punctata, non rhizomelic type: A group of inherited disorder affecting the skeleton, skin, eyes and mental function. The disorders are characterized mainly by stippled epiphyses (abnormal calcification near joints) during infancy. The non-rhizomelic forms tend to be milder, with minimal or no upper limb shortening. The Joints in the ends of the arms and legs tend to be more affected. Some of the specific disorders in this group are Conradi-Hunermann disease, Happle's chondrodysplasia and brachytelephalagnic chondrodysplasia punctata. The range of symptoms and severity may vary between disorders.
  • Chondrodystrophia calcificans congenita: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
  • Chondrodystrophia punctata, autosomal dominant: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
  • Christian-Demyer-Franken syndrome: A rare syndrome characterized mainly by mental retardation and skeletal abnormalities.
  • Chromosome 1(q12q22) duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q12q22) of chromosome 1 which results in various abnormalities.
  • Chromosome 1, Terminal deletion: A genetic disorder where a portion of the genetic material from the long arm of chromosome 1 is missing. The symptoms or severity may vary somewhat between patients.
  • 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 10pter p13: A rare chromosomal disorder where duplication of a portion of chromosome 10 causes various abnormalities such as a wasted build, gut and heart placement abnormalities and lack of reflexes.
  • 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 12 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 12 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 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 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, Partial Monosomy 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q deletion: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 14 uniparental disomy syndrome: A rare chromosomal disorder where two homologues are obtained from one parent.
  • 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 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 15 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 15, distal trisomy 15q: A very rare chromosomal disorder where the end part of the long arm (q) of chromosome 15 occurs three times in each cell instead of two. Symptoms and severity depend on the size of the chromosomal portion that is duplicated.
  • 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 tetrasomy syndrome: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities.
  • Chromosome 15q, partial duplication (distal q arm): A rare chromosomal disorder involving an extra copy of genetic material from the distal part of 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, tetrasomy: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 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 involved.
  • 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 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 17p, partial duplication: A rare chromosomal disorder involving an extra copy 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 duplicated 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, 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 18, trisomy 18q: A rare chromosomal disorder involving an extra copy 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 duplicated genetic material.
  • 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 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 2q37: A very rare chromosomal disorder where a part of the long arm of chromosome 2 is missing which results in various birth defects and abnormalities. The features of the disorder are determined by the exact size and location of the deletion.
  • Chromosome 2, trisomy 2p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
  • Chromosome 20, deletion 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 20p deletion syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 20p, partial duplication: A rare chromosomal disorder where a copy of the short arm of chromosome 20 has been triplicated instead of duplicated resulting in various anomalies.
  • 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 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 22q11 deletion: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
  • Chromosome 2p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
  • Chromosome 3, Monosomy 3p2: A very rare chromosomal disorder involving the deletion of the end portion of short arm of chromosome 3. Symptoms vary according to the exact size and location of the deletion.
  • 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 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, trisomy 4p: A rare chromosomal disorder where a portion of chromosome four is duplicated so there is three copies of it instead of the normal two.
  • Chromosome 4, trisomy 4q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 4q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 5q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 5 is deleted resulting in various abnormalities.
  • Chromosome 6 Ring: A rare chromosomal disorder where the ends of chromosome 6 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 6 ring syndrome: A rare chromosomal disorder where the ends of chromosome 6 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 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, 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 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 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, monosomy 8q: A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • 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, 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 8, trisomy 8p: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
  • Chromosome 8, trisomy 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Chromosome 8p deletion syndrome: A rare chromosomal disorder involving deletion of the short arm (p) of chromosome 8 resulting in various abnormalities.
  • Chromosome 8p duplication syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
  • Chromosome 8p inverted duplication syndrome: A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of the duplication.
  • Chromosome 8p mosaic tetrasomy: A rare chromosomal disorder where a part of the short arm of chromosome 8 is repeated four times in some of the body's cells instead of the normal two resulting in various abnormalities.
  • Chromosome 8q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Chromosome 9, Partial Monosomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities. The type and severity of symptoms is determined by the amount of genetic material that is missing.
  • Chromosome 9, Trisomy 9p (Multiple Variants): A rare chromosomal disorder characterized by mental retardation, head and face malformations and various other abnormalities.
  • Chromosome 9, monosomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities.
  • Chromosome 9, partial trisomy 9p: A very rare genetic disorder where a portion of the genetic material on the short arm (p) 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, trisomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is duplicated so there is three copies of it instead of the normal two.
  • 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 deletion syndrome: A rare genetic disorder where a portion of the genetic material from the short arm of chromosome 9 is missing. The symptoms or severity may vary somewhat between patients.
  • 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.
  • Chromosome Xp11.23-p11.22 Duplication syndrome: A rare syndrome characterized by the association of a large head, lack of hair, scoliosis and a skin anomaly. The reported patients tend to involve parents who were related.
  • 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 lip -- palate -- abnormal thumbs -- microcephaly: A very rare syndrome characterized by a small head, thumb abnormalities and a cleft lip and palate.
  • Cleidocranial dysplasia: A rare genetic disorder characterized by collarbone defects, late ossification of cranial sutures and delayed tooth eruption.
  • Clomiphene Citrate -- Teratogenic Agent: There is evidence to indicate that exposure to Clomiphene Citrate 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.
  • Coenzyme Q 10 (CoQ10), deficiency: A rare inherited disorder characterized by the deficiency of Coenzyme Q 10. The range and severity of symptoms is variable.
  • Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
  • Combarros Calleja Leno syndrome: A rare disorder characterized by the association of glaucoma at birth with a form of ataxia.
  • Congenital Disorders of Glycosylation Type Ia: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • Congenital Gigantism with Skeletal Dysplasia: A rare syndrome characterized mainly by the association of a large size at birth with various skeletal anomalies.
  • Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal abnormalities: A rare syndrome characterized by overgrowth of fatty tissue, blood vessel malformations, birth marks and skeletal and spinal abnormalities. The condition is a progressive one and there have been less than 20 reported cases.
  • Congenital Muscular Dystrophy: Muscle weakness and wasting that starts at birth or around the time of birth. The severity and extent of muscle involvement is greatly variable.
  • Congenital SMA with arthrogryposis: Type of SMA (genetic motor neuron disease) appearing from birth
  • Congenital disorder of glycosylation type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • Congenital fiber type disproportion: A rare inherited disease involving abnormalities in the growth of type I muscle fibers.
  • Connective tissue dysplasia, Spellacy type: A very rare syndrome caused by an inherited collagen disorder and characterized by skin abnormalities, skeletal and eye anomalies and joint problems.
  • Conradi-Huenermann Syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
  • Cortada Koussef Matsumoto syndrome: A rare syndrome characterized by various skeletal abnormalities, small head and mental retardation.
  • Cortada-Kousseff-Matsumoto syndrome: A rare syndrome characterized by various skeletal abnormalities, small head and mental retardation.
  • Costovertebral angle tenderness: costovertebral angle tenderness - also known as or related to renal angle tenderness indicates sudden distention of the renal capsule
  • Coumarin Derivatives -- Teratogenic Agent: There is evidence to indicate that exposure to Coumarin Derivatives 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.
  • 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.
  • Craniolenticulosutural dysplasia: A rare syndrome characterized by skeletal defects and an unusual facial appearance consisting mainly of a prominent forehead, wide-set eyes, broad nose and a prominent forehead with a birthmark.
  • 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.
  • Crisponi syndrome: A very rare syndrome characterized by excessive muscle contractions in response to stimulus, claw hand, distinctive facial features and fever. Most patients die within months of birth due to complications of hyperthermia but some cases are slowly progressive with longer survival possible.
  • Cutis laxa, recessive type 2: A very rare syndrome characterized primarily by loose skin and delayed development.
  • Cyprus facial neuromusculoskeletal syndrome: A rare inherited syndrome characterized by variable neurological, muscular and skeletal abnormalities as well as a characteristic face.
  • Czeizel-Losonci syndrome: A very rare syndrome characterized by missing fingers, ureter abnormalities, webbed fingers and toes and abnormal spinal development.
  • Daish-Hardman-Lamont syndrome: A very rare syndrome characterized mainly by loose joints, tall stature and buildup of fluid inside the skull.
  • 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
  • Del (2) (p15-p13): A rare chromosomal disorder characterized by severe developmental delay. The observations were made in two reported cases.
  • Del (2) (q33-q36): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (2) (q37.3-qter) and dup (8) (q24.3-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.
  • Del (3) (pter-25): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in 22 reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (3) (q12-q21): 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.
  • Del (3q21) and del (13q22.2): 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(1) (23-q25): A very rare chromosomal disorder where a portion of the long arm (23q-q25) of chromosome one is missing.
  • 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 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • 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 8q: A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Deletion of the Short Arm of Chromosome 1: A condition characterized by deletion of the short arm of chromosome 1
  • Dermato-cardio-skeletal syndrome Borrone type: A rare progressive syndrome characterized by skin, heart and skeletal abnormalities.
  • Desbuquois dysplasia: A rare condition characterized by short-limbed dwarfism, characteristic facial features and skeletal abnormalities.
  • Developmental problems: Physical or mental development difficulty.
  • 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.
  • Dicoumarol -- Teratogenic Agent: There is evidence to indicate that exposure to Dicoumarol 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.
  • Dicumarol -- Teratogenic Agent: There is evidence to indicate that exposure to Dicumarol 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.
  • Diphallus -- rachischisis -- imperforate anus: A very rare syndrome characterized mainly by genital abnormalities, absent anal opening and malformed vertebrae.
  • Diphenadione -- Teratogenic Agent: There is evidence to indicate that exposure to Diphenadione 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.
  • Disc herniation:
  • Disc prolapse: A misaligned or "slipped" disc in the spine.
  • 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.
  • Dreyfus syndrome: A rare syndrome characterized by flattened vertebrae, kyphoscoliosis, spinal ankylosis, short neck, dwarfism and other abnormalities.
  • Dup (2) (p22-p21): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (2) (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) (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(1) (q11-q25) mosaicism: A very rare chromosomal disorder where a portion of the long arm (q11-q25) of chromosome one is duplicated in some of the body's cells.
  • Duplication 2p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
  • 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 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.
  • Duplication 8p: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
  • Duplication 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
  • Duplication 9p partial: A very rare genetic disorder where a portion of the genetic material on the short arm (p) 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.
  • Dyggve-Melchior-Clausen Syndrome: A rare genetic bone growth disorder characterized by short stature and other skeletal deformities.
  • Dyserythropoietic anemia, congenital type 1: A very rare genetic blood disorder where abnormal red blood cells are made resulting in anemia. Finger and toe abnormalities are also usually present.
  • Dysostosis: Defective bone formation.
  • Dysostosis acral with facial and genital abnormalities: A very rare inherited disorder characterized by short stature and head, face, skeletal and genital abnormalities. The facial appearance is that of a two-month old fetus. The severity and range of symptoms is variable. This dominantly inherited form of Robinow syndrome tends to be milder than the recessive form.
  • 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.
  • Dysspondyloenchondromatosis: A rare disorder characterized by skeletal abnormalities and short stature.
  • Eccentrochondrodysplasia: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down.
  • Ectodermal dysplasia -- neurosensory deafness: A rare syndrome characterized by nerve deafness, abnormally bent fifth fingers, ectodermal dysplasia and scoliosis.
  • Ehlers-Danlos syndrome type VI: A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities.
  • Ehlers-Danlos syndrome with periventricular heterotopia: The association of a brain malformation (periventricular nodular heterotopia) with a connective tissue disorder called Ehlers-Danlos syndrome.
  • Ehlers-Danlos syndrome, 6B: A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities but lysyl-hydroxylase activity is normal1.
  • Ehlers-Danlos syndrome, arthrochalasic type: A rare genetic connective tissue disorder characterized by hyperextensible and fragile skin and hypermobile joints which leads to dislocations, osteoarthritis and fractures - previously known as EDS types 7A and 7B.
  • Ehlers-Danlos syndrome, classic type: A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility - a combination of ED types I and II.
  • Ehlers-Danlos syndrome, kyphoscoliosis type: A rare genetic connective tissue disorder caused by deficiency of the lysyl hydroxylase enzyme and is characterized by progressive scoliosis and muscle weakness and fragile sclera - previously known as EDS type 6.
  • 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.
  • Emerinopathy: A rare, progressive muscle disease that starts during childhood and involves muscle weakness and wasting.
  • Emery-Dreifuss muscular dystrophy, X-linked: A muscle wasting disorder mainly involving the muscles in the arms, legs, face, neck, spine and heart. Symptoms generally only occur in males but female carriers may have some symptoms.
  • Eng Strom syndrome: A rare syndrome characterized by short stature and episodes of locked finger joints.
  • Engelhard-Yatziv syndrome: A rare syndrome characterized mainly by droopy eyelids, small head and finger and toe abnormalities.
  • Epilepsy -- microcephaly -- skeletal dysplasia: A rare syndrome characterized by epilepsy, a small head and skeletal abnormalities.
  • Epileptic encephalopathy, early infantile, 2: A genetic form of epilepsy which is severe and starts during infancy. The condition is considered an atypical form of Rett syndrome due to the development of stereotypical hand movements and repetitive behaviors. This form of the condition is caused by a defect on the CDKL5 gene.
  • Epiphyseal dysplasia -- hearing loss -- dysmorphism: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
  • Epiphyseal dysplasia dysmorphism camptodactyly: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
  • Erdheim disease II: A rare condition that occurs as a result of acromegaly which is where excessive growth hormone production results in gigantism. Symptoms include overgrowth of cartilage in parts of the spine and collar bone which causes kyphosis, pain and restricted movement.
  • Escobar syndrome, type B: A rare genetic disorder characterized by a pursed mouth, creased tongue, eye anomalies and a curved spine.
  • FACES syndrome: A rare syndrome characterized mainly by short stature, webbed fingers and toes and skeletal abnormalities.
  • Face symptoms: Symptoms affecting the face
  • Facial dysmorphism -- intellectual deficit -- short stature -- hearing loss: A very rare inherited disorder characterized by retarded growth, mental retardation, bone abnormalities and distinctive facial features.
  • Facio-cardio-musculo-skeletal syndrome: A rare syndrome characterized by facial, heart, muscle and skeletal abnormalities.
  • Facioskeletalgenital syndrome, Rippberger type: A rare syndrome characterized by facial, skeletal and genital abnormalities.
  • Femoral facial syndrome: A rare genetic disorder characterized by underdeveloped femur, short nose and cleft palate.
  • Fetal Valproate Syndrome: A condition affecting the fetus caused by the medication valproate
  • Fibrochondrogenesis: A rare genetic disorder characterized by short stature, abnormal bone formation and stillbirth or neonatal death.
  • Fibrodysplasia Ossificans Progressiva: A rare genetic connective tissue disorder characterized by a short toe, fibrous dysplasia and bone formation in muscles, ligaments, tendons and soft connective tissue.
  • Fibrous dysplasia of bone: A bone development abnormality that can occur in one or more bones. The bone develops tumor-like growths in bones where normal bone is replaced by fibrous tissue. It can occur as a single lesion or in multiples. Malignancy can occur but is rare. Symptoms are determined by the location and extent of the abnormality.
  • Flattened vertebrae: Flattened vertebrae are bone of the spine that have a flattened shape.
  • Focal dermal hypoplasia: A rare genetic disorder characterized by bone, skin, teeth and pigmentation abnormalities as well as asymmetry of the face, trunk and extremities.
  • Forward bending of the spine: Forward bending of the spine is a condition in which the spinal column curves toward the front of the body.
  • Forward slippage of one vertebra: Forward slippage of one vertebra refers to one vertebra that has slipped toward the front of the body and is out of alignment with the rest of the spinal column.
  • Forward slippage of one vertebra over another: Displacement of a vertebral body on the one below
  • 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.
  • Frank-Ter Haar syndrome: A rare genetic bone disorder characterized by skeletal abnormalities, enlarged corneas and characteristic facial abnormalities.
  • Freeman-Sheldon Syndrome: A very rare genetic disorder characterized by abnormal development of the skeleton and muscles.
  • Fried syndrome: A rare syndrome characterized mainly by mental retardation, buildup of fluid inside the skull and an unusual facial appearance. The disorder is inherted in a X-linked manner.
  • Friedreich ataxia: A progressive inherited neuromuscular disorder involving slow degeneration of the spinal cord and brain.
  • Friedreich ataxia -- congenital glaucoma: A rare disorder characterized by glaucoma at birth and a progressive neuromuscular disorder.
  • Friedreich's ataxia: Progressive muscle weakness from nerve damage.
  • Frontometaphyseal dysplasia: A rare genetic disorder characterized by craniofacial abnormalities, skeletal abnormalities, hearing problems and wasting of arm and leg muscles.
  • Fryns macrocephaly: A rare syndrome characterized by a large head, seizures, spasticity, weakness and unusual facial appearance.
  • Fryns-Fabry-Remans syndrome: A rare syndrome characterized by the progressive fusion of the front of the vertebrae as well as the excessive growth of the whole body.
  • Fryns-Smeets-Thiry syndrome: A rare syndrome characterized by short stature, mental retardation, small head, skeletal anomalies and various other abnormalities.
  • Fucosidosis: A rare progressive biochemical disorder involving deficiency of an enzyme (alpha-fucosidase) which results in accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues.
  • Fucosidosis type 1: A rare biochemical disorder involving deficiency of an enzyme (alpha-fucosidase) which results in accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. It is an infantile form of fucosidosis which starts early and rapidly progresses to early death.
  • Fucosidosis type II: A form of the biochemical disorder called fucosidosis where an enzyme deficiency (alpha-fucosidase) results in the accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. Symptoms start later and progress slower than in type I and is distinguished by warty skin growths.
  • Gangliosidosis, generalized GM1 type 3: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase A) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type III involves a lesser degree of accumulation than type II or I.
  • Gaucher disease type 3: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3. Type 3 is a subacute neurological form which often first appears in childhood.
  • Geroderma osteodysplastica: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
  • Gerodermia osteodysplastica: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
  • Gerodermia osteodysplastica hereditaria: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
  • Gerodermia osteodysplasticum: A rare connective tissue disorder characterized mainly by elastic skin, a prematurely aged facial appearance and abnormal calcification of bones causing them to break easily.
  • Gigantism partial -- nevi -- hemihypertrophy -- macrocephaly: A rare genetic disorder characterized by overgrowth of bones, fatty tissues and skin in various parts of the body.
  • Gloomy syndrome: A rare genetic condition which is characterized by distinctive physical features and severe growth retardation that starts during the fetal stage. Intelligence is not affected.
  • Glycogen storage disease type 2: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down.
  • Glycogenosis type 2: A rare inherited biochemical disorder involving the harmful accumulation of certain chemicals (glycogen) in body tissues due to the deficiency of an enzyme (?-glucosidase or acid maltase) needed to break it down. The severity of the condition is variable and onset may occur during infancy, childhood or adulthood.
  • Golden-Lakin syndrome: A rare syndrome characterized by a webbed neck, sunken chest, curved spine and various other abnormalities.
  • Goldenhar Syndrome: A congenital condition which affects the eyes, ears and vertebrae
  • Goldenhar disease: A rare disorder characterized by numerous, often asymmetric, defects involving the face, ear, mouth and vertebrae.
  • Greenberg dysplasia: A very rare form of short-limbed dwarfism.
  • Gurrieri-Sammito-Bellussi syndrome: A rare syndrome characterized by epilepsy, short stature and skeletal abnormalities.
  • HEM dysplasia: A rare disorder characterized by hydrops, dwarfism and abnormal bone calcification. The condition generally results in fetal death.
  • Hajdu-Cheney Syndrome: A rare genetic disorder characterized by early tooth loss, relaxed joints, small stature and bone abnormalities.
  • Hallermann-Streiff Syndrome: A condition which affects stature, head shape and hair growth
  • Head symptoms: Symptoms affecting the head or brain
  • Heart defects -- limb shortening: A very rare syndrome characterized mainly by short limbs and heart defects.
  • Hemi 3 syndrome: A very rare syndrome where parts of the body undergo excessive growth give the body an asymmetrical appearance.
  • Hemihypertrophy in context of NF: Enlargement of one side of the body that frequently occurs in sufferers of neurofibromatosis.
  • Hemivertebrae: Hemivertebrae are abnormally wedge shaped vertebrae that are present at birth.
  • Hereditary peripheral nervous disorder: A group of inherited disorders affecting the peripheral nerves (nerves other than the brain and spinal cord). The motor, sensory and/or autonomic nerves may be affected. Examples of such conditions includes Dejerine-Sottas disease and Charcot-Marie-Tooth disease.
  • Herrmann Opitz arthrogryposis syndrome: A very rare syndrome characterized mainly by contractures, skeletal abnormalities and short stature.
  • 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.
  • Homocystinuria: A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body.
  • Homocystinuria due to cystathionine beta-synthase deficiency: A rare genetic biochemical disorder where a deficiency of cystathionine beta-synthase results in high levels of methionine and homocysteine in the blood and reduced levels of cyteine in the blood. There are two subtypes of the disorder with varying manifestations. One type responds to Vitmain B6 supplementation and the other doesn't. Those who do respond to Vitamin B6 tend to have milder manifestations.
  • Homocystinuria due to defect in methylation cbl e: An inherited organic acid disorder where an enzyme deficiency (methionine synthase reductase) impairs the body's ability to break down certain proteins consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects. It is a form of vitamin B12 deficiency.
  • Homocystinuria syndrome: A rare genetic connective tissue disorder caused by an enzyme deficiency and characterized by dislocation of eye lens, malar flush and osteoporosis.
  • Humerospinal dysostosis -- congenital heart disease: A very rare syndrome characterized mainly by various skeletal defects and heart disease which is present at birth.
  • Hunter-MacDonald syndrome: A rare syndrome characterized by multiple skeletal abnormalities, short stature, unusual facial features, hearing loss and a predisposition for developing meningiomas.
  • Hunter-Mcdonald syndrome: A rare syndrome characterized mainly be short stature, characteristic facial appearance and a predisposition for developing brain tumors.
  • Hurler syndrome:
  • Hutterite cerebroosteonephrodysplasia syndrome: A very rare disorder characterized by short stature and a severe degenerative brain disorder.
  • Hydrocephalus -- costovertebral dysplasia -- Sprengel anomaly: A rare syndrome characterized mainly by hydrocephaly and upwardly displaced shoulder blade (Sprengel anomaly).
  • Hydrocephaly tall stature joint laxity and kyphoscoliosis: A very rare disorder characterized mainly by the association of excessive fluid in the skull (hydrocephaly), tall stature, loose joints and kyphoscoliosis. Various other anomalies may also be present.
  • Hypertrichotic osteochondrodysplasia: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
  • Hypertrophic neuropathy of Dejerine-Sottas: An inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in numbness, muscle weakness and loss of function. The severity of the condition is variable.
  • 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.
  • Hypoplastic thumb -- mullerian aplasia: A rare disorder characterized by an underdeveloped thumb, vertebral abnormalities and abnormal development or lack of a part of the female reproductive system (uterus, cervix and upper vagina). The external genitalia appear normal and the ovaries usually function normally.
  • Ichthyosis-cheek-eyebrow syndrome: A rare genetic disorder involving sparse eyebrows, full cheeks and a skin condition characterized by fish-like scales.
  • Idiopathic adolescent scoliosis: Spinal curvature that occurs in adolescents for no apparent reason.
  • 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.
  • Intellectual deficit -- cataracts -- calcified pinnae -- myopathy: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
  • Intellectual deficit -- multiple anomalies: A very rare syndrome characterized mainly by mental retardation and multiple birth abnormalities such as heart defects, undescended testes, curved spine and distinctive facial appearance.
  • Interferon Alpha -- Teratogenic Agent: There is evidence to indicate that exposure to Interferon Alpha 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.
  • Intermittent paravertebral muscle spasm: Intermittent paravertebral muscle spasm is a condition in which there are periodic involuntary, painful contractions of the muscles on both sides of the spinal column.
  • Intervertebral disc inflammation: inflammation, irritation and swelling of the intervertebral disk space.
  • Intracranial aneurysms -- multiple congenital anomaly: A very rare syndrome characterized mainly by brain aneurysms (dilated blood vessel) and various other abnormalities.
  • Ischio-spinal dysostosis: A skeletal disorder where the ischial bones (lowest portion of the pelvic bones) fail to develop properly. The condition often results in progressive spinal problems which can lead to complications such as neurological problems or impaired lung and heart functioning.
  • Ischio-spinal dysostosis -- rib gaps -- nephroblastomatosis: A rare syndrome characterized by underdeveloped ischial bones (lower back portion of hip bone) and vertebral anomalies and kidney disease.
  • Ischio-spinal dysostosis with cystic kidney disease: A rare syndrome characterized by underdeveloped ischial bones (lower back portion of hip bone), vertebral anomalies and kidney disease.
  • Ischio-vertebral dysplasia: A skeletal disorder where the ischial bones (lowest portion of the pelvic bones) fail to develop properly. The condition often results in progressive spinal problems which can lead to complications such as neurological problems or impaired lung and heart functioning.
  • Ischio-vertebral syndrome: A skeletal disorder where the ischial bones (lowest portion of the pelvic bones) fail to develop properly. The condition often results in progressive spinal problems which can lead to complications such as neurological problems or impaired lung and heart functioning.
  • Jaffe-Lichtenstein syndrome: A rare genetic bone disorder characterized by benign bone growths which can cause painful swellings and bone deformities and makes bone prone to fractures.
  • Jarcho-Levin Syndrome: A rare genetic disorder characterized by spinal column abnormalities, dwarfism and a swollen abdomen as well as other anomalies.
  • Johnson-Munson syndrome: A rare congenital disorder characterized by missing fingers and toes, abnormal vertebrae and various malformations of the organs.
  • Juvenile Paget disease: A rare genetic bone disorder involving abnormal loss of bone mineralization and remineralization, broadened bone shafts and high levels of alkaline phosphatase in the blood. Some juvenile cases are relatively mild.
  • Juvenile Paget's Disease:
  • 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.
  • KBG Syndrome: A very rare genetic disorder involving short stature, mental retardation, abnormal development of various bones.
  • Kabuki syndrome: A rare genetic disorder characterized by distinctive facial features.
  • Kennerknecht-Sorgo-Oberhoffer syndrome: A very rare syndrome characterized mainly by absent gonads and an underdeveloped right side of the heart.
  • King-Denborough syndrome: A rare birth disorder characterized by musculoskeletal abnormalities and nerve muscle problems.
  • 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 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.
  • Koussef nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.
  • Kousseff-Nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.
  • Kozlowski-Celermajer syndrome: A rare disorder characterized by congenital heart disease and spine and upper arm bone abnormalities.
  • Kyphoscoliosis: kyphoscoliosis describes an abnormal curvature of the spine in both a coronal and sagittal plane. It is a combination of kyphosis and scoliosis
  • Kyphosis: Increased curvature of the thoracic spine, giving the appearance of being hunched over.
  • Kyphosis in children:
  • 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-like osseous dysplasia -- dwarfism: A very rare syndrome characterized mainly by bone abnormalities, joint dislocations, unusual facial appearance and dwarfism.
  • 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.
  • Lateral body wall complex: A very rare syndrome characterized involving the absence of the whole or part of an arm or leg as well as a severe defect of the abdominal wall. Death often occurs at birth.
  • Lethal chondrodysplasia, Moerman type: A very rare lethal syndrome characterized mainly by abnormal bone development.
  • Leukodystrophy: A very rare group of metabolic diseases where chemical anomalies affect the development or maintenance of the protective coating around nerves (myelin sheath). The brain, spinal cord and peripheral nerves may be involved. The range and severity of symptoms is determined by the chemical involved but one of the main symptoms for all the leukodystrophies is a gradual loss of previously acquired mental or physical skills.
  • Limb symptoms: Symptoms affecting the limbs
  • Lindstrom syndrome: A rare disorder characterized by mental retardation, facial anomalies, short stature and seizures.
  • Lobstein disease: A group of rare inherited diseases that involves fragile bones. There are many different types based on the severity and extent of symptoms. Some types are severe enough to cause stillbirth or infant death whereas other types may cause few if any problematic symptoms.
  • Lockwood-Feingold syndrome: A rare genetic disorder characterized mainly by arthritis, skeletal abnormalities and a lack of subcutaneous fat.
  • Loewenthal syndrome: A rare disorder involving thickening and hardening (sclerosis of connective tissue and skin fat) which affects muscles and movement.
  • Lujan-Fryns syndrome: A rare genetic disorder characterized by mental retardation and marfanoid habitus (features of Marfan's syndrome).
  • Lumbar malsegmentation, short stature and facial anomalies: A rare syndrome characterized by vertebral abnormalities, short stature and facial anomalies.
  • MPS-IV (Morquio Disease): A condition which is characterized by biochemically distinct mucopolysaccharidosis
  • Maffucci Syndrome: A rare genetic disorder characterized by benign cartilage overgrowths, skeletal deformities and dark red irregular skin patches.
  • Marden-Walker Syndrome: A rare genetic disorder characterized by blepharophimosis, joint contractures and fixed facial expression.
  • Marfan Syndrome type 2: A very rare syndrome characterized by some of the skeletal and heart blood vessel abnormalities seen in Marfan syndrome but there are no eye abnormalities. The genetic cause of the two types is different.
  • Marfan syndrome: A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue.
  • Marfan-Like syndrome: Any congenital condition with a group of symptoms that resembles Marfan syndrome but doesn't quite fulfill all the criteria. Marfan syndrome is a connective tissue disorder that affects the skeleton, lungs, eyes, heart and blood vessels.
  • Marinesco-Sjogren I: A rare condition characterized by cerebellar ataxia, speaking difficulty, mental retardation, short stature and tooth, hair and nail abnormalities.
  • Marinesco-Sjogren syndrome: A group of recessively inherited disorder characterized mainly by incoordination due to a brain anomaly.
  • Mastocytosis -- short stature -- hearing loss: A very rare syndrome characterized mainly by short stature, abnormal skin pigmentation, small ears and hearing impairment.
  • Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia: A very rare syndrome characterized mainly by short stature, abnormal skin pigmentation, small ears and hearing impairment.
  • McDonough syndrome: A very rare syndrome characterized mainly by mental retardation and multiple birth abnormalities such as heart defects, undescended testes, curved spine and distinctive facial appearance.
  • McKusick type metaphyseal chondrodysplasia: A rare genetic disorder characterized by short stature, skeletal abnormalities and fine, fragile hair.
  • Melnick-Needles syndrome: A rare genetic bone disorder characterized by skeletal abnormalities and characteristic facial abnormalities.
  • Mental retardation -- arachnodactyly -- hypotonia -- telangiectasia: A very rare syndrome characterized mainly by mental retardation, short fingers, reduced muscle tone and spider veins (telangiectasia).
  • Mental retardation -- hip luxation -- G6PD variant: A very rare syndrome characterized mainly by mental retardation, partially dislocated hips and an enzyme defect (G6PD).
  • Mental retardation -- macrocephaly -- coarse facies -- hypotonia: A very rare syndrome characterized mainly by mental retardation, large head, coarse face and reduced muscle tone.
  • Mental retardation -- short stature -- heart and skeletal anomalies: A very rare syndrome characterized mainly by mental retardation, short stature and heart and skeletal anomalies.
  • Mental retardation -- short stature -- scoliosis: A very rare syndrome characterized mainly by mental retardation, short stature and scoliosis.
  • Mental retardation -- skeletal dysplasia -- abducens palsy: A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and weakness of an eye muscle.
  • Mental retardation athetosis microphthalmia: A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.
  • Mental retardation cataracts calcified pinnae myopathy: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
  • 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, 93: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect in the BRWD3 gene. Female carriers may also suffer from some mental deficiency.
  • Mental retardation, X-linked, Cabezas type: A rare X-linked disorder characterized by mental retardation, muscle wasting, short stature and other 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, 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, Vitale type: A rare disorder characterized by mental retardation and facial and skeletal anomalies. 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. The genetic defect occurs on chromosome Xq24.
  • Metaphyseal chondrodysplasia, recessive type: A recessively inherited skeletal disorder characterized by abnormal development of the bone metaphyses which results in short stature from birth.
  • Metatrophic dysplasia: A very rare form of dwarfism involving short limbs and a long trunk. Less than 100 cases of the condition have been reported.
  • Metatropic dwarfism: A rare genetic disorder characterized by extremely small stature, short limbs and skeletal abnormalities.
  • Michels-Caskey syndrome: A very rare disorder characterized by underdeveloped thumbs, spine deformities and lack of development of the female reproductive organs such as the uterus and vagina (mullerian duct aplasia). The external genitalia may appear to be normal.
  • Micrencephaly corpus callosum agenesis: A very rare disorder characterized by abnormal brain development which results in a very small brain. Patients may die during infancy and survivors suffer mental retardation and other physical abnormalities.
  • Microbrachycephaly -- ptosis -- cleft lip: A very rare syndrome characterized mainly by a small, short head, droopy eyelids and a cleft lip.
  • Microcephalic osteodysplastic primordial dwarfism types 1 and 3: Microcephalic osteodysplastic primordial dwarfism types 1 and 3 were originally regarded as separate conditions but it was recently concluded that they were different expressions of the same condition. The main differences between the two forms is a difference in the radiological bone anomalies. The condition is characterized mainly by bone abnormalities, short stature and a small head.
  • Microcephaly -- cervical spine fusion anomalies: A very rare syndrome characterized mainly by a small head and fused neck vertebrae.
  • Microcephaly -- glomerulonephritis -- Marfanoid habitus: A very rare syndrome characterized mainly by a small head, kidney disorder and a and a tall, slight build.
  • Microcephaly brachydactyly kyphoscoliosis: A very rare syndrome characterized by the association of profound mental retardation, a small head, short digits and a curved spine.
  • Microsomia -- hemifacial -- radial defects: A very rare syndrome characterized mainly by a wide range of defects involving the face, ear, mouth, vertebrae and radial bones.
  • Midline field defects: Congenital problems that occur along the vertical axis of the body. Defects can involve the brain, spine, heart, genitals and midline of the head and face.
  • Mikaelian syndrome: A rare disorder characterized mainly by permanently flexed fingers, deafness and hair and teeth abnormalities.
  • Minicore disease: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The rate of progression and severity of symptoms is variable.
  • Minicore myopathy with external ophthalmoplegia: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The ophthalmoplegic form is distinguished by the presence of eye muscle weakness. The severity of symptoms is variable.
  • Minicore myopathy, moderate, with hand involvement: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The progressive form with hand involvement is less severe than the classic form with breathing problems and scoliosis usually absent or mild. It is distinguished by the presence of hyperlaxity. The severity of symptoms is variable.
  • Monosomy 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Morquio syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (galactosamine-?-sulfate - type A, ? galactosidase - type B) needed to break it down. The symptoms are variable with type A and B being clinically indistinguishable.
  • Morquio syndrome type A: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (galactosamine-?-sulfate) needed to break it down.
  • Morquio syndrome, type B: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (? galactosidase) needed to break it down.
  • Mucopolysaccharidosis type 6: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (Arylsulfatase ?) needed to break it down.
  • Mucopolysaccharidosis type I Hurler syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-diuronidase) needed to break it down. There are three main sub-types of the disorder: Hurler - severe form, Scheie - mild form and Hurler/Scheie form which is intermediate.
  • Multicore disease: A nonprogressive congenital muscle disease which mainly involves weakness of the proximal muscles. The severity of symptoms is variable.
  • Multiminicore disease (MmD): A rare congenital muscle disorder involving weakness and wasting of skeletal muscles. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The rate of progression and severity of symptoms is variable.
  • Multiple endocrine neoplasia type 2b: A rare genetic disorder characterized by multiple tongue neuromas and medullary thyroid carcinoma.
  • Multiple myeloma: A rare malignant cancer that occurs in the bone marrow. More common in skull, spine, rib cage, pelvis and legs.
  • Multiple pterygium syndrome: A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.
  • Multiple pterygium syndrome, autosomal recessive: A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.
  • Muscular dystrophy -- congenital infantile cataract -- hypogonadism: A very rare syndrome characterized mainly by muscle wasting, infantile cataracts and hypogonadism.
  • Muscular dystrophy, Duchenne and Becker type: An inherited l disorder characterized by progressive muscle weakness. The disorder is caused by a genetic anomaly and results in insufficient quantities of or ineffective dystrophin which is needed for normal muscle functioning. The disorder is expressed in males but females can be carriers.
  • Muscular dystrophy, congenital, infantile with cataract -- hypogonadism: A very rare syndrome characterized mainly by muscle wasting, infantile cataracts and hypogonadism.
  • Muscular dystrophy, congenital, merosin-positive: A very rare group of diseases that involves early infantile onset of muscle weakness, loss of muscle tone and contractures.
  • Muscular dystrophy, limb-girdle, autosomal recessive, type 2E: An autosomal recessive form of limb-girdle muscular dystrophy where muscle weakness and atrophy is caused by mutations of the beta-sarcoglycan gene. The severity of the condition is greatly variable from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade.
  • Musculoskeletal symptoms: Symptoms affecting muscles or bones of the skeleton.
  • Myasthenic syndrome, congenital, slow-channel: A rare disorder involving progressive muscle wasting and weakness of variable severity depending on the exact origin of the genetic defect. The problem arises from defective processes at the junction of nerve and muscle cells.
  • Myhre Syndrome: A very rare inherited disorder characterized by retarded growth, mental retardation, bone abnormalities and distinctive facial features.
  • Myhre-Ruvalcaba-Graham syndrome: A rare disorder characterized by mental retardation, retarded growth before and after birth, early-onset deafness and facial anomalies as well as other problems.
  • Myopathy congenital multicore with external ophthalmoplegia: A rare disorder characterized by muscle weakness and as well as weakness or paralysis of the external eye muscles. Severity of symptoms are variable.
  • Myopathy with lactic acidosis and sideroblastic anemia: A rare disorder of the bone marrow and skeletal muscles which manifests as muscle disease and anemia. Progressive intolerance to exercise usually starts during childhood with anemia occurring around adolescence.
  • Myopathy, Myofibrillar, BAG3-Related: An early-onset, progressive muscle disease.
  • Myopathy, X-linked with postural muscle atrophy: An inherited, adult-onset muscle disease where the postural muscles become progressively weak and wasted while other muscles become enlarged. During early adulthood, patients tend to have an athletic build and muscle symptoms tend to start during the fourth decade of life. Death usually occurred between the ages of 40 and 75 years of age due to involvement of the heart.
  • Myopathy, congenital nonprogressive with Moebius and Robin sequences: A rare inherited disorder characterized by nonprogressive muscle weakness from birth as well as the Moebius (congenital facial palsy with impaired ability to move eyes) and Pierre Robin sequence (underdeveloped jaw, cleft soft palate, abnormal tongue position).
  • Myopathy, myotubular: A group of rare inherited disorders characterized by muscle wasting. There are three forms of the condition ranging from relatively mild to severe resulting in extreme weakness of breathing muscles.
  • N syndrome: A rare genetic disorder characterized by mental and physical retardation, eye abnormalities, retarded growth, hearing impairment and a high risk of developing cancers, particularly leukemia. It is an extremely rare condition originally described in two brothers.
  • Nail-Patella Syndrome: A rare inherited disorder characterized by small or absent kneecap and ridged and/or absent nails as well as other abnormalities
  • Native American myopathy: A rare genetic disorder characterized by muscle disease from birth, cleft palate and malignant hyperthermia.
  • Navajo neurohepatopathy: A rare genetic disease found in Navajo populations. It involves peripheral nerve degeneration, liver disease and corneal ulcers. The genetic disease is believed to be caused by maternal exposure to uranium from waters contaminated by old mines.
  • Nemaline myopathy 4: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 4 is caused by a defect on the tropomyosin 2 gene on chromosome 9p13.
  • Nemaline myopathy 7: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 7 is caused by a defect on the cofilin-2 gene.
  • Nemaline myopathy, early onset type: A rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemalin rods in the muscle tissue which affects its function. The muscle weakness may be severe but is generally not a progressive condition. The main muscles affected are the limbs, neck and face
  • Neural tube defect, folate-sensitive: Neural tube defects caused by abnormal folate or homocysteine metabolism. Neural tube defects are brain or spine defects such as an opening in the spinal cord through which the spinal cord protrudes.
  • Neural tube defects X-linked: A very rare disorder where neural tube defects (brain and spine defects) such as spina bifida are inherited in a X-linked manner (only males are affected whereas females are carriers).
  • Neurofibromatosis syndrome: A rare genetic disorder characterized by areas of increased and decreased skin pigmentation and the development of many non-cancerous nerve and skin tumors some of which may eventually become malignant.
  • Neurofibromatosis syndrome Type II: A rare genetic disorder characterized by areas of increased and decreased skin pigmentation, acoustic neuromas and the development of many noncancerous nerve and skin tumors some of which may eventually become malignant - it is a more severe form of type I neurofibromatosis.
  • Neurofibromatosis-2: Genetic disorder often leading to tumors on nerves.
  • Neuronal intranuclear inclusion disease: A very rare syndrome characterized mainly by muscle and nerve degeneration.
  • Nevoid basal cell carcinoma syndrome: A rare genetic disorder characterized by basal cell carcinomas, broade face and rib abnormalities.
  • Nevus comedonicus syndrome: A rare condition characterized by the development of large comedones which can occur in groups or linear arrangements. The skin lesions tend to occur mainly on the face, neck, arms and trunk. If it is associated with other congenital malformations, it is called a syndrome. There are a variety of possible malformations that can occur in the syndromic form e.g. skeletal defects, brain anomalies and eye problems such as cataracts.
  • Nicoumalone -- Teratogenic Agent: There is evidence to indicate that exposure to Nicoumalone 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.
  • Night blindness -- skeletal anomalies -- unusual facies: A very rare syndrome characterized mainly by night blindness, a distinctive face and skeletal abnormalities.
  • Nonkeratan-sulfate-excreting Morquio syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down. This disorder is distinguished form other similar conditions by the fact that no keratosulfate is excreted in the urine.
  • Occult spinal dysraphism: A rare disorder characterized by progressive neurological deterioration due to compression of the spinal cord in the spine.
  • Oculoauriculovertebral (OAV) dysplasia: A congenital condition which affects the eyes, ears and vertebrae.
  • Oculomelic amyoplasia: A rare genetic disorder characterized by limb contractures (tightening of muscles which limits movement) from birth and eye abnormalities.
  • Oculopalatocerebral syndrome: A rare inherited syndrome characterized mainly by short stature, small head, mental retardation, cleft palate and eye problems.
  • Omphalocele -- exstrophy -- imperforate anus: A very rare syndrome characterized mainly by the absence of an anal opening, spine defects and omphalocele (abdominal organ protruding from the belly button).
  • Ophthalmoplegia, progressive external -- scoliosis: A very rare syndrome characterized mainly by progressive eye muscle weakness and scoliosis.
  • Opthalmoplegia progressive external scoliosis: A rare disorder characterized by progressive weakening of external eye muscles and scoliosis.
  • Ossified Ear cartilages with Mental deficiency, Muscle Wasting and Bony Changes: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
  • Osteochondrodysplatic dwarfism -- deafness -- retinitis pigmentosa: A rare syndrome characterized by extreme dwarfism, deafness, progressive scoliosis and retinal pigment anomalies.
  • Osteodysplasia, familial, Anderson type: A very rare syndrome characterized mainly by skeletal abnormalities involving the spine, legs, pelvis and collar bone.
  • Osteogenesis imperfecta: Weak bones ("brittle bone disease") and loose joints
  • Osteogenesis imperfecta Type I: A rare genetic connective tissue disorder characterized by fragile bones, blue sclerae and hyperextensible joints.
  • Osteogenesis imperfecta type II: A rare lethal form of the genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities.
  • Osteogenesis imperfecta type IV: A rare genetic connective tissue disorder characterized by fragile bones and blue sclerae. The osteoporosis tends to be moderate and there is generally no joint hyperextensibility.
  • Osteogenesis imperfecta, Type VI: A rare genetic connective tissue disorder characterized by fragile bones and light-colored eyes. There are a number of types of osteogenesis imperfecta and type 6 is considered a moderate to severe form.
  • Osteogenesis imperfecta, type 1A: A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a type of osteogenesis imperfecta I where the teeth are opalescent and blue sclerae may be absent.
  • Osteogenesis imperfecta, type 1B: A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a milder form of osteogenesis imperfecta I where the teeth are normal and blue sclerae may be absent.
  • Osteogenesis imperfecta, type 2: A rare lethal form of the genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities.
  • Osteogenesis imperfecta, type 2A: A rare lethal form of a genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities. Type IIA has a different origin of the genetic mutation but the clinical features are similar. Type IIA involves a defect on the COL1A2 gene. The main difference is that type IIA tends to involve a large head and dark blue eyes.
  • Osteogenesis imperfecta, type 3: A rare genetic connective tissue disorder characterized by progressive limb deformity and normal sclerae.
  • Osteogenesis imperfecta, type 4: A rare genetic connective tissue disorder characterized by fragile bones and blue sclerae - a form of OI involving moderate osteoporosis and no joint hyperextensibility.

Conditions listing medical symptoms: Vertebra symptoms:

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Conditions listing medical complications: Vertebra symptoms:

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