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Results 91 - 100 of 181 for Abnormality of limbs
  1. Meige disease 
    ... abnormally, it causes swelling (lymphedema) in the lower limbs.Meige disease ... abnormalities are present from birth (congenital), although the swelling ...
    https://medlineplus.gov/genetics/condition/meige-disease - Genetics
  2. Shprintzen-Goldberg syndrome 
    ... may have long, slender fingers (arachnodactyly), unusually long limbs, a ... have other skeletal abnormalities, such as one or more fingers that are ...
    https://medlineplus.gov/.../condition/shprintzen-goldberg-syndrome - Genetics
  3. Ophthalmo-acromelic syndrome 
    ... in skeletal formation, normal shaping (patterning) of the limbs, as well as eye formation and development. The ... would impair the normal development of the skeleton, limbs, and eyes. These changes likely underlie the anophthalmia ...
    https://medlineplus.gov/.../condition/ophthalmo-acromelic-syndrome - Genetics
  4. Fryns syndrome 
    ... the condition. Diaphragmatic hernia, abnormal face, and distal limb anomalies Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome Genetic Testing Registry: Fryns syndrome Fryns ...
    https://medlineplus.gov/genetics/condition/fryns-syndrome - Genetics
  5. Tetra-amelia syndrome 
    ... disorder characterized by the absence of all four limbs. ("Tetra" is the Greek word for "four," and " ... is particularly involved in the formation of the limbs and neurological development. The RSPO2 gene provides instructions ...
    https://medlineplus.gov/genetics/condition/tetra-amelia-syndrome - Genetics
  6. Dopa-responsive dystonia 
    ... is typically involved. Affected individuals may have unusual limb ... called parkinsonism. These abnormalities include unusually slow movement ( ...
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia - Genetics
  7. Thanatophoric dysplasia 
    ... a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the ... PubMed Cohen MM Jr. Some chondrodysplasias with short limbs: molecular perspectives. Am J Med Genet. 2002 Oct ...
    https://medlineplus.gov/genetics/condition/thanatophoric-dysplasia - Genetics
  8. Greig cephalopolysyndactyly syndrome 
    ... is a disorder that affects development of the limbs, head, and face. The features of this syndrome ... some cases, the condition results from a chromosomal abnormality—such as a large deletion or rearrangement of ...
    https://medlineplus.gov/.../greig-cephalopolysyndactyly-syndrome - Genetics
  9. Spastic paraplegia type 11 
    ... intellectual disability; exaggerated reflexes (hyperreflexia) of the lower ... however, abnormalities in muscle tone and difficulty walking usually become ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-11 - Genetics
  10. OFD1 gene 
    ... parts of the body, including the brain, face, limbs, and kidneys.The OFD1 protein is located at ... syndrome. This disorder is characterized by particular brain abnormalities, weak muscle tone (hypotonia), delayed development, unusual eye ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
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