Raine syndrome

Last revised by Rohit Sharma on 15 Dec 2018

Raine syndrome, also known as lethal osteosclerotic bone dysplasia, is a very rare genetic disorder. Infants with this syndrome present with numerous characteristic craniofacial features as well as cerebral calcifications.  Many individuals with this disorder are stillborn or die as neonates 4.

The estimated incidence of Raine syndrome is less than 1 in 1,000,000 1.

  • craniofacial:
    • microcephaly 
    • cleft palate
    • hypoplastic nose
    • gum hyperplasia 
    • exophthalmos 
    • low set ears 3 
  • cerebral calcifications 4

Raine syndrome occurs due to a point mutation in the FAM20C gene which codes for a Golgi-related protein kinase known as FAM20C, which is a secreted element within both teeth and bone. FAM20C is responsible for phosphorylation of a peptide which inhibits biomineralisation 2.

The syndrome was first described in 1989 by Raine and Winter 3.

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