hypoplastic or aplastic tibia with polydactyly

Term ID

DOID:0111564

Synonyms

• absence of tibia with polydactyly
• absent tibia-polydactyly syndrome
• hypoplastic tibiae-postaxial polydactyly syndrome
• tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
• Werner mesomelic syndrome

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. https://www.ncbi.nlm.nih.gov/pubmed/19847792

References

• GARD:8309
• MESH:C535564
• OMIM:188740
• ORDO:3332
• ORDO:988
• UMLS_CUI:C1861099

Ontology

Human Disease   ( DOID:0111564 )