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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.
Features include: Wide mouth, Congenital pulmonary airway malformation, Microcephaly, and Short stature and 7 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 2 | Microcephaly, Abnormal facial shape |
Arms and legs |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 4 of 12 sources · Last updated Oct 4, 2026, 3:03 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Brachymorphism-onychodysplasia-dysphalangism syndrome
2
Short middle phalanx of the 5th finger, Short distal phalanx of the 5th finger |
Lungs and breathing | 1 | Congenital pulmonary airway malformation |
Pregnancy and birth | 1 | Congenital pulmonary airway malformation |
Growth and development | 1 | Short stature |
Skin | 1 | Nail dysplasia |