Brachymorphism-onychodysplasia-dysphalangism syndrome

Orpha code: 1292OMIM code: 113477

Definicja

A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
BOD syndrome
Zespół BOD
Zespół Seniora
Senior syndrome
Kod ORPHA
1292
Kod OMIM
113477
Kod ICD10
Q87.1
Kod ICD11
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl