Brachydactyly-preaxial hallux varus syndrome
ORPHA:1278· ICD-10 Q73.8
Definition
A rare dysostosis with brachydactyly with exstraskeletal manifestations characterized by hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further descriptions in the literature since 1992.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal