Brachydactyly type A6

Orpha code: 93382OMIM code: 112910

Definicja

A rare primary bone dysplasia disorder characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Osebold-Remondini syndrome
Zespół Osebolda i Remondiniego
Kod ORPHA
93382
Kod OMIM
112910
Kod ICD10
Q73.8
Kod ICD11
-

No additional description.

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