Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Branchio-oculo-facial syndrome

Branchio-oculo-facial syndrome is an autosomal dominant disorder caused by mutations of the TFAP2A gene. It is characterized by facial anomalies, brachial cleft, and strabismus.

Systematic

Inborn skeletal malformations
Al-Gazali-Bakalinova syndrome
Brachydactyly
Branchio-oculo-facial syndrome
TFAP2A
Congenital contractural arachnodactyly
Ehlers-Danlos syndrome due to tenascin-X deficiency
Hydrolethalus 2
Lacrimoauriculodentodigital syndrome
Loeys-Dietz syndrome
Multiple synostoses syndrome
Multiple synostoses syndrome 3
Orofacial cleft 11
Orofaciodigital syndrome
Periodontal Ehlers-Danlos syndrome
Proximal symphalangism
Renal tubular acidosis with arthrogryposis
Simpson-Golabi-Behmel syndrome
Stapes ankylosis with broad thumbs and toes
Syndactyly type 5
Synpolydactyly type 1
Tarsal-carpal coalition syndrome
Tatton-Brown-Rahman syndrome
Townes-Brocks syndrome
Trigonocephaly 2
Van Maldergem syndrome 2

References:

1.

Lin AE et al. (1995) Further delineation of the branchio-oculo-facial syndrome.

external link
2.

Reiber J et al. (2010) Additional clinical and molecular analyses of TFAP2A in patients with the Branchio-Oculo-Facial syndrome: Previously reported patient.

external link
3.

Stoetzel C et al. (2009) Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.

external link
4.

Demirci H et al. (2005) New ophthalmic manifestations of branchio-oculo-facial syndrome.

external link
5.

None (2001) Another case of preaxial polydactyly and white forelock in branchio-oculo-facial syndrome.

external link
6.

Davies AF et al. (1999) Delineation of two distinct 6p deletion syndromes.

external link
7.

Bennaceur S et al. (1998) Branchio-oculo-facial syndrome with cleft lip and bilateral dermal thymus.

external link
8.

Richardson E et al. (1996) Colobomatous microphthalmia with midfacial clefting: part of the spectrum of branchio-oculo-facial syndrome?

external link
9.

McCool M et al. (1994) Branchio-oculo-facial syndrome: broadening the spectrum.

external link
10.

Lee WK et al. (1982) Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging, and unusual facial appearance: a new syndrome with dominant transmission.

external link
11.

Hall BD et al. (1983) Brief clinical report: a new syndrome of hemangiomatous branchial clefts, lip pseudoclefts, and unusual facial appearance.

external link
12.

Fujimoto A et al. (1987) New autosomal dominant branchio-oculo-facial syndrome.

external link
13.

Legius E et al. (1990) Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome.

external link
14.

Lin AE et al. (1992) Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities.

external link
15.

Mazzone D et al. (1992) Branchio-oculo-facial syndrome. Report of a new case with agenesis of cerebellar vermis.

external link
16.

Schmerler S et al. (1992) Long-term evaluation of a child with the branchio-oculo-facial syndrome.

external link
17.

Reiber J et al. (2010) Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.

external link
18.

Gestri G et al. (2009) Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.

external link
19.

Tekin M et al. (2009) A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.

external link
20.

Milunsky JM et al. (2008) TFAP2A mutations result in branchio-oculo-facial syndrome.

external link
21.

Lin AE et al. (2000) Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome.

external link
22.

Fielding DW et al. (1992) Recurrence of orbital cysts in the branchio-oculo-facial syndrome.

external link
23.

OMIM.ORG article

Omim 113620 external link
24.

Orphanet article

Orphanet ID 1297 external link
25.

Wikipedia article

Wikipedia EN (Branchio-oculo-facial_syndrome) external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits