DISEASE: Stapes ankylosis with broad thumb and toes
Entry
H00868 Disease
Name
Stapes ankylosis with broad thumb and toes
Description
This syndrome is characterized by conductive hearing loss due to congenital fixation of stapes, hyperopia, a hemicylindrical nose, broad thumbs and first toes. Noggin, the causative gene of several symphalangisms, has been implicated in the disease.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H00868 Stapes ankylosis with broad thumb and toes
Brown DJ, Kim TB, Petty EM, Downs CA, Martin DM, Strouse PJ, Moroi SE, Milunsky JM, Lesperance MM
Title
Autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies is caused by heterozygous nonsense and frameshift mutations in NOG, the gene encoding noggin.
