Raine syndrome
From Wikipedia, the free encyclopedia
| Raine syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 259775 |
Raine syndrome (RNS), also called osteosclerotic bone dysplasia, is a rare autosomal recessive congenital disorder characterized by craniofacial anomalies including microcephaly, exophthalmos, midface hypoplasia, cleft palate, gum hypertrophy and generalized osteosclerosis on radiography. It is usually lethal within a few hours after birth.
It was first characterized in 1989.[1]
It is associated with deficiencies in FAM20C.[2]
[edit] References
- ^ Raine J, Winter RM, Davey A, Tucker SM (December 1989). "Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis". J. Med. Genet. 26 (12): 786–788. doi:10.1136/jmg.26.12.786. PMC 1015765. PMID 2614802. http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=2614802.
- ^ Simpson MA, Hsu R, Keir LS et al (November 2007). "Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development". Am. J. Hum. Genet. 81 (5): 906–912. doi:10.1086/522240. PMC 2265657. PMID 17924334. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)63868-3.
|
|||||||||||||||||||||||||||||||||||||||||||||||
 |
This disease article is a stub. You can help Wikipedia by expanding it. |
