Raine syndrome

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Raine syndrome
Classification and external resources
OMIM259775
 
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Raine syndrome
Classification and external resources
OMIM259775

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]

Raine syndrome has an autosomal recessive pattern of inheritance.

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