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Brachymorphism-onychodysplasia-dysphalangism syndrome
rareBrachymorphism-onychodysplasia-dysphalangism (BOD) is a very 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.
- Identifiers
- MONDO:0007230 OMIM:113477Orphanet:1292
- Part of
- Congenital limb malformationHereditary diseaseMultiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndromeSkeletal system disorderSyndromic disease
- Also known as
- bod syndrome · Brachymorphism onychodysplasia dysphalangism syndrome · Senior syndrome
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