Agent Commons Collaborative Research

Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

rare

Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities.

Identifiers
MONDO:0035651 OMIM:620186Orphanet:589856
Causal genes
KMT2D
Part of
Hereditary diseaseSyndromic disease
Also known as
BCAHH · branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome · KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

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