Oculootofacial Dysplasia

Clinical Characteristics
Ocular Features: 

Many patients have lower lid colobomas, sometimes with malformations of the zygoma.  The palpebral fissures may appear narrow while some patients have a suggestion of hypertelorism.

Systemic Features: 

Neural development is normal but patients have significant facial dysmorphism. A variety of organ and bony malformations have been described.  Cardiac septal defects and sometimes renal malformations may be present.  The ears are large and are sometimes associated with preauricular tags.  Cleft lip and/or palate with bifid uvula, micrognathia, high nasal bridge, large nose, a short philtrum, choanal atresia, and mixed hearing loss are often present.  Choanal atresia is common.

Genetics

Biallelic loss-of-function mutations in the TXNL4A gene have been found in this presumed autosomal recessive condition. 

Treatment
Treatment Options: 

Individual malformations can often be surgically corrected.

References
Article Title: 

Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome

Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, Boute O, Gundlach J, Czeschik JC, van Essen AJ, Hazan F, Park S, Hing A, Kuechler A, Lohmann DR, Ludwig KU, Mangold E, Steenpass L, Zeschnigk M, Lemke JR, Lourenco CM, Hehr U, Prott EC, Waldenberger M, Bohmer AC, Horsthemke B, O'Keefe RT, Meitinger T, Burn J, Ludecke HJ, Strom TM. Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. Am J Hum Genet. 2014 Dec 4;95(6):698-707.

PubMed ID: 
25434003

References

Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, Boute O, Gundlach J, Czeschik JC, van Essen AJ, Hazan F, Park S, Hing A, Kuechler A, Lohmann DR, Ludwig KU, Mangold E, Steenpass L, Zeschnigk M, Lemke JR, Lourenco CM, Hehr U, Prott EC, Waldenberger M, Bohmer AC, Horsthemke B, O'Keefe RT, Meitinger T, Burn J, Ludecke HJ, Strom TM. Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. Am J Hum Genet. 2014 Dec 4;95(6):698-707.

PubMedID: 25434003

Hing AV, Leblond C, Sze RW, Starr JR, Monks S, Parisi MA. A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance. Am J Med Genet A. 2006 Apr 15;140(8):804-12.

PubMedID: 16523509