broad and beaked nose

Fraser Syndrome 3

Clinical Characteristics
Ocular Features: 

Cryptophthalmos is always present.  The anterior chamber was described as 'abnormal' in several stillborn male fetuses.

Systemic Features: 

Low-set simple ears were noted in two stillborn fetuses.  Micrognathia and a broad and beaked nose with notched alae nasi were described together with a malformed and atretic larynx.  The fingers and toes may be short and cutaneous syndactyly may be present.  The position of the anus may be abnormal.  The lungs may have abnormal lobulation and appear hyperplastic and hyperechogenic.  The bladder and kidneys may be absent.

Genetics

Homozygous mutations in the GRIP1 gene (12q14.3) have been identified in this autosomal recessive condition.

Fraser syndrome 1 (219000) results from homozygous mutations in the FRAS1 gene.

Fraser syndrome 2 (617666) is caused by homozygous mutations in the FREM2 gene.

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No treatment has been reported.

References
Article Title: 

Mutations in GRIP1 cause Fraser syndrome

Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM. Mutations in GRIP1 cause Fraser syndrome. J Med Genet. 2012 Apr 17. [Epub ahead of print].

PubMed ID: 
22510445
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