U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Search results

Items: 2

1.

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:
325265
Concept ID:
C1837822
Disease or Syndrome
2.

Bilateral choanal atresia/stenosis

MedGen UID:
867503
Concept ID:
C4021884
Congenital Abnormality

Supplemental Content

Find related data

Search details

See more...

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...