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Brachydactyly-preaxial hallux varus syndrome
Preaxial brachydactyly-hallux varus syndrome is characterized the association of 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.
- Synonym(s): -
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Neonatal
- ICD-10: Q73.8
- OMIM: 112450
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
The syndrome has been described in eight affected individuals from four successive generations of one family.
Intellectual deficit was observed in all reported individuals.
Transmission appears to be autosomal dominant.