Raine Syndrome

Alternative Names

  • RNS
  • Osteosclerotic Bone Dysplasia, Lethal
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

259775

Mode of Inheritance

Autosomal recessive

Gene Map Locus

7p22

Description

Lethal osteosclerotic bone dysplasia is a rare disorder characterized by generalized osteosclerosis with periosteal new bone formation and distinctive facies. The facial appearance in lethal osteosclerotic bone dysplasia (Raine syndrome) is characterized by a wide anterior fontanelle, exophthalmos and severe depression of the nasal bridge with severe midface hypoplasia. The nose in many cases appears severely hypoplastic but this is not consistent. The mouth is usually triangular. Other abnormalities include gum hypertrophy, natal teeth and cleft palate/uvula.

The radiological findings in lethal osteosclerotic bone dysplasia include generalized osteosclerosis of all bones and the base of the skull with cortical hyperostosis and periosteal new bone formation. The ribs usually appear irregular in shape due tp fractures.

By year 2003, a total of nine cases were described in the world with lethal osteosclerotic bone dysplasia. Of these nine cases, five reported patients were Arabs from Saudi Arabia, Palestine, and Egypt indicating that the gene is probably more common in the region. Parental consanguinity in many of the cases strongly supports suggestions that this is an autosomal recessive disorder.

 

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
259775.1EgyptMaleNoNo Wide anterior fontanel; Proptosis; D... NM_020223.4:c.957-3C>GHomozygousAutosomal, RecessiveAl-Gazali et al. 2003; Simpson et al. 2007

Other Reports

Palestine

Shalev et al. (1999) described a newborn girl with a lethal sclerosing bone dysplasia leading to prenatal skeletal alterations and microcephaly, intracranial calcifications, and generalized osteosclerosis. 

Saudi Arabia

Patel et al. (1992) described a case of osteopetrosis presenting with rare features of dysmorphism with proptosis due to hypoplasia of the orbits and the temporal bone. The case also had calcifications in the periventricular regions, the falx cerebri and the corpora colliculi. In 1996, Al-Mane and colleagues described a second patient with Raine syndrome, with a third known to be affected, all from the same family. In 1998 Al Mane et al. reported a girl, the third child of a Saudi consanguineous couple, who was stillborn after 37 weeks of gestation with a pregnancy complicated by polyhydramnios. 

© CAGS 2021. All rights reserved.