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GTR Home > Conditions/Phenotypes > Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome

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

Synonyms
Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance; Branchio oculo facial syndrome Hing type; Burn-McKeown syndrome; OCULOOTOFACIAL DYSPLASIA
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: TXNL4A-Related Craniofacial Disorders
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.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Hermann-Josef Lüdecke
Dagmar Wieczorek
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Available tests

17 tests are in the database for this condition.

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Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BMKS, DIB1, DIM1, SNRNP15, TXNL4, U5-15kD, TXNL4A
    Summary: thioredoxin like 4A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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