Concept information
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Abnormalities, Multiple
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities
Urogenital Abnormalities
Urogenital Diseases
Female Urogenital Diseases and Pregnancy Complications
Female Urogenital Diseases
Urogenital Abnormalities
Preferred term
Fraser Syndrome
Type
-
Topical Descriptor
Broader concept
Entry terms
- Cryptophthalmos Syndactyly Syndrome
- Cryptophthalmos-Syndactyly Syndrome
- Cryptophthalmos-Syndactyly Syndromes
- Cryptophthalmos with Other Malformations
Note
- do not confuse with FRASIER SYNDROME
Scope note
- 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.
History note
- 2011
In other languages
-
Finnish
-
Fraser
-
Fraserin oireyhtymä
-
Fraserin syndrooma
-
Hallermann-Streiff
-
Hallermann-Streiff oireyhtymä
-
Hallermann-Streiffin oireyhtymä
-
Hallermann-Streiffin syndrooma
-
kyklopia
-
orofaciodigitaalinen oireyhtymä
-
piilosilmäisyys
-
piilosilmäisyysoireyhtymä
-
piilosilmäisyyssyndrooma
-
Stickler
-
Stickler oireyhtymä
-
Sticklerin oireyhtymä
-
Sticklerin syndrooma
-
syndromata malformationum congenitarum praecipue faciem afficientia
-
triko-rhino-falangeaalinen oireyhtymä
-
Ullrich-Feichtiger
-
Ullrich-Feichtigerin oireyhtymä
-
Ullrich-Feichtigerin syndrooma
-
Swedish
-
Kryptofalmos-syndaktylisyndrom
URI
http://www.yso.fi/onto/mesh/D058497
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