| 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]
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