pulmonary anomalies

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.


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

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

Fraser syndrome 3 (617667) results from homozygous mutations in GRIP1.

Autosomal recessive
Treatment Options: 

No treatment has been reported.

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