Stapes ankylosis with broad thumb and toes

Definition:

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.

References:

[1]. David J Brown, et al. 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. Am J Hum Genet. 2002 Sep;71(3):618-24. [Content Brief]

[2]. Y Hilhorst-Hofstee, et al. The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia. Clin Dysmorphol. 1997 Jul;6(3):195-203. [Content Brief]

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