Fraser Syndrome 2

Clinical Characteristics

Ocular Features:

Cryptophthalmos, both unilateral and bilateral, is the ocular hallmark. The lid margins may be fused.

Systemic Features:

Multiple systemic malformations are usually present. A small mouth, nasal dysplasia with hypoplastic alae nasi, and syndactyly may be seen. Urogenital malformations such as renal dysgenesis or dysplasia, ambiguous genitalia, streak ovaries may be present. Pulmonary hypoplasia and imperforate anus have been reported.

Genetics

Homozygous mutations in the FREM2 [1] gene (13q13.3) have been identified in Fraser syndrome 2.

See Fraser syndrome 1 [2] (219000 [3]) for additional features that may be present in Fraser syndrome.

Fraser syndrome 3 [4] (617667 [5]) results from homozygous mutations in GRIP1 [6].

Treatment

Treatment Options:

No treatment has been reported.

References

Article Title:

Fraser syndrome due to homozygosity for a splice site mutation of FREM2 [7]

Shafeghati Y, Kniepert A, Vakili G, Zenker M. Fraser syndrome due to homozygosity for a splice site mutation of FREM2. Am J Med Genet A. 2008 Feb
15;146A(4):529-31.

PubMed ID:

18203166

Molecular study of 33 families with Fraser syndrome new data and mutation review [8]

van Haelst MM, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, Pearce K; Fraser Syndrome Collaboration Group, Hennekam RC, Scambler PJ. Molecular study of 33 families with Fraser syndrome new data and mutation review. Am J Med Genet A. 2008 Sep 1;146A(17):2252-7.

PubMed ID:

18671281

Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs [9]

Jadeja S, Smyth I, Pitera JE, Taylor MS, van Haelst M, Bentley E, McGregor L, Hopkins J, Chalepakis G, Philip N, Perez Aytes A, Watt FM, Darling SM, Jackson I, Woolf AS, Scambler PJ. Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs. Nat Genet. 2005 May;37(5):520-5.

PubMed ID:

15838507