Fraser Syndrome
Rare autosomal recessive congenital malformation syndrome characterized by cryptophthalmos, SYNDACTYLY and UROGENITAL ABNORMALITIES. Other anomalies of bone, ear, lung, and nose are common. Mutations on FRAS1 and FREM2 are associated with the syndrome.
Year introduced: 2011
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Subheadings:
Tree Number(s): C05.116.099.370.894.819.428, C05.660.585.800.428, C05.660.906.819.428, C11.250.390, C12.050.351.875.397, C12.200.706.410, C12.800.410, C16.131.077.371, C16.131.384.442, C16.131.621.585.800.428, C16.131.621.906.819.428, C16.131.939.410
MeSH Unique ID: D058497
Entry Terms:
- Syndrome, Fraser
- Cryptophthalmos-Syndactyly Syndrome
- Cryptophthalmos Syndactyly Syndrome
- Cryptophthalmos-Syndactyly Syndromes
- Cryptophthalmos with Other Malformations
See Also: