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Hypoplastic tibiae-postaxial polydactyly syndrome
Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands.
ORPHA:3332Classification level: Disorder
- Hypoplastic tibia-polydactyly syndrome
- Werner mesomelic syndrome
- Prevalence: Unknown
- Inheritance: Autosomal dominant
- Age of onset: Infancy, Neonatal
- ICD-10: Q74.8
- OMIM: 188740
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
Prevalence is unknown but the syndrome is very rare with only a few case reports described in the literature.
Additional findings include a thickened and/or duplicated fibula, hand syndactyly, and triphalangeal thumb.
An association with Hirschprung disease has been reported. It is suggested that hypoplastic tibia-polydactyly syndrome and triphalangeal thumb-polysyndactyly syndrome (see this term) may be variants of the same disorder.
Autosomal dominant inheritance has been reported.