Preferred Label : Raine syndrome;
Symbol : RNS;
CISMeF acronym : RNS;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Osteosclerotic bone dysplasia, lethal; Osteomalacia, sclerosing, with cerebral calcification; CSOCC;
Description : Raine syndrome is a neonatal osteosclerotic bone dysplasia of early and aggressive
onset that usually results in death within the first few weeks of life, although there
have been some reports of survival into childhood. Radiographic studies show a generalized
increase in the density of all bones and a marked increase in the ossification of
the skull. The increased ossification of the basal structures of the skull and facial
bones underlies the characteristic facial features, which include narrow prominent
forehead, proptosis, depressed nasal bridge, and midface hypoplasia. Periosteal bone
formation is also characteristic of this disorder and differentiates it from osteopetrosis
and other known lethal and nonlethal osteosclerotic bone dysplasias. The periosteal
bone formation typically extends along the diaphysis of long bones adjacent to areas
of cellular soft tissue (summary by Simpson et al., 2009).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the family with sequence similarity 20, member C gene (FAM20C,
611061.0001);
Prefixed ID : #259775;
Origin ID : 259775;
UMLS CUI : C1850106;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
False automatic mappings
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)