Brachymorphism-onychodysplasia-dysphalangism syndrome

Orpha code: 1292OMIM code: 113477

Definition

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
Classification

Malformation syndrome

Synonyms
BOD syndrome
Zespół BOD
Zespół Seniora
Senior syndrome
ORPHA code
1292
OMIM code
113477
ICD10 code
Q87.1
ICD11 code
-

No additional description.

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