hypoplastic or aplastic tibia with polydactyly (DOID:0111564)
Alliance: disease page
Synonyms: absence of tibia with polydactyly; absent tibia-polydactyly syndrome; hypoplastic tibiae-postaxial polydactyly syndrome; tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome; Werner mesomelic syndrome
Alt IDs: OMIM:188740, MESH:C535564, ORDO:3332, ORDO:988, UMLS_CUI:C1861099
Definition: A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3.