fibular aplasia-ectrodactyly syndrome
MONDO:0007225
Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females.
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Fibular aplasia-ectrodactyly syndrome
Fibular aplasia-ectrodactyly syndrome (or other synonyms such as brachydactyly-ectrodactyly with fibular aplasia or hypoplasia) is a very rare genetic condition which is characterized by the absence (aplasia) or underdevelopment (hypoplasia) of the fibula (calf bone, long bone lateral to the tibia), ectrodactyly (split hand/foot malformation), and/or brachydactyly (shortened digits) or syndactyly (fusion of digits). Additional symptoms may include shortness of the femur and tibial/knee/hip/ankle defects. This condition is inherited in an autosomal dominant manner, meaning that a single copy of the altered gene inherited from one parent is sufficient to cause the condition.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.