Raine syndrome

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;

Détails

Origin ID

259775;

UMLS CUI

C1850106;

Automatic exact mappings (from CISMeF team)
- Radon [NCIt concept]
- Raine dysplasia (disorder) [SNOMED CT concept]
- Registered Nurse [NCIt concept]
Currated CISMeF NLP mapping
- Lethal osteosclerotic bone dysplasia [ICD-11 More detail]
- Lethal osteosclerotic bone dysplasia [ORDO Disease]
- Raine syndrome [Disease (Nov.)]
- Raine syndrome [MeSH concept]
- raine syndrome [MeSH Supplementary Concept]
False automatic mappings
- Refractory Neutropenia [NCIt concept]
- Renal nutcracker syndrome [ORDO Disease]
Genes related to phenotype
- Family with sequence similarity 20, member C [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bowing of the long bones [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Brachyturricephaly [HPO term]
- Cerebral calcification [HPO term]
- Choanal atresia [HPO term]
- Choanal atresia or stenosis [HPO term]
- Choanal stenosis [HPO term]
- Cleft palate [HPO term]
- Depressed nasal bridge [HPO term]
- Downslanted palpebral fissures [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Enamel hypoplasia [HPO term]
- Gingival overgrowth [HPO term]
- Global developmental delay [HPO term]
- High palate [HPO term]
- Highly arched eyebrow [HPO term]
- Hydrocephalus [HPO term]
- Hydronephrosis [HPO term]
- Hydroureter [HPO term]
- Hypertelorism [HPO term]
- Hypophosphatemia [HPO term]
- Increased bone mineral density [HPO term]
- Large fontanelles [HPO term]
- Long hallux [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Mandibular prognathia [HPO term]
- Microcephaly [HPO term]
- Microdontia [HPO term]
- Micrognathia [HPO term]
- Micromelia [HPO term]
- Midface retrusion [HPO term]
- Mixed hearing impairment [HPO term]
- Narrow mouth [HPO term]
- Natal tooth [HPO term]
- Neonatal death [HPO term]
- Pectus excavatum [HPO term]
- Plagiocephaly [HPO term]
- Posteriorly rotated ears [HPO term]
- Proptosis [HPO term]
- Protruding ear [HPO term]
- Protruding tongue [HPO term]
- Pulmonary hypoplasia [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Thoracic hypoplasia [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Lethal osteosclerotic bone dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lethal osteosclerotic bone dysplasia [ORDO Disease]
- Lethal osteosclerotic bone dysplasia [ICD-11 More detail]
- Raine dysplasia (disorder) [SNOMED CT concept]
- Raine syndrome [MeSH concept]
- Raine syndrome [Disease (Nov.)]
- Raine syndrome [MedDRA Preferred Term]
- raine syndrome [MeSH Supplementary Concept]

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