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Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome

TXNL4A-related craniofacial disorders comprise a range of phenotypes that includes: isolated choanal atresia; choanal atresia with minor anomalies; and Burn-McKeown syndrome (BMKS), which is characterized by typical craniofacial features (bilateral choanal atresia/stenosis, short palpebral fissures, coloboma of the lower eyelids, prominent nasal bridge with widely spaced eyes, short philtrum, thin vermilion of the upper lip, and prominent ears). Hearing loss is common and cardiac defects and short stature have been reported. Intellectual disability is rare. [from GeneReviews]

MedGen UID:
Concept ID:
Disease or Syndrome

Bilateral choanal atresia/stenosis

MedGen UID:
Concept ID:
Congenital Abnormality

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