fibular aplasia-ectrodactyly syndrome
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.
MONDO:0002254
syndromic disease
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MONDO:0018230
skeletal dysplasia
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MONDO:0018234
dysostosis
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MONDO:0019054
congenital limb malformation
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fibular aplasia ectrodactyly
related