Fibular aplasia-complex brachydactyly syndrome

Orpha code: 2639OMIM code: 228900

Definicja

A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (<i>GDF5</i>).

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Du Pan syndrome
Zespół Du Pan
Kod ORPHA
2639
Kod OMIM
228900
Kod ICD10
Q73.8
Kod ICD11
LD26.0

No additional description.

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