Brachydactyly type A6

Orpha code: 93382OMIM code: 112910

Definition

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
Classification

Malformation syndrome

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

No additional description.

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