Brachymorphism-onychodysplasia-dysphalangism syndrome
Findings
No curated finding names Brachymorphism-onychodysplasia-dysphalangism syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Brachymorphism-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.
Definition from the Mondo Disease Ontology (MONDO:0007230), read 2026-09-29. CC BY 4.0.
Features
38 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent fingernailHPOHP:0001817
- Very frequent (80% to 99% of cases)
- Absent toenailHPOHP:0001802
- Very frequent (80% to 99% of cases)
- BrachydactylyHPOHP:0001156
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Fingernail dysplasiaHPOHP:0100798
- Very frequent (80% to 99% of cases)
- Hypoplastic fifth fingernailHPOHP:0008398
- Very frequent (80% to 99% of cases)
Show the remaining 26
- Toenail dysplasiaHPOHP:0100797
- Very frequent (80% to 99% of cases)
- Wide nasal bridgeHPOHP:0000431
- Very frequent (80% to 99% of cases)
- Biparietal narrowingHPOHP:0004422
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
- High foreheadHPOHP:0000348
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: Brachymorphism-onychodysplasia-dysphalangism syndrome
- Also called
- bod syndromeSenior syndrome