A very rare congenital malformation syndrome with characteristics of bilateral hypoplasia of the tibia and polydactyly of the feet and hands. 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. Autosomal dominant inheritance has been reported.
Sequence
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID
Concept Designation Description
Status
Designation Type
PHIN Preferred Term Flag
Code Flag
3307383018
Hypoplastic tibia and postaxial polydactyly syndrome
Active
Synonym
false
false
3307384012
Werner mesomelic syndrome
Active
Synonym
false
false
3307385013
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome