|Classification and external resources|
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.
It is associated with deficiencies in FAM20C.
Raine syndrome has an autosomal recessive pattern of inheritance
- ^ 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.
- ^ 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.
, extracellular: scleroprotein disease (excluding laminin and keratin)