ORPHA:1832
Osteosclerotic bone dysplasia
Synonyms: Raine syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare disorder defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Osteosclerotic bone dysplasia | Raine syndrome |
| fr | Dysplasie osseuse ostéosclérotique | Syndrome de Raine |
| de | Knochendysplasie, osteosklerotische | Raine-Syndrom |
| es | Displasia ósea osteoesclerótica | Síndrome de Raine |
| it | Displasia osteosclerotica dell'osso | Sindrome di Raine |
| nl | Osteosclerotische botdysplasie | Syndroom van Raine |
| pt | Displasia óssea osteosclerótica | Síndrome Raine |
| pl | Śmiertelna dysplazja osteosklerotyczna kości | Zespół Raine · Dysplazja osteosklerotyczna kości |
| cs | Letální osteosklerotická kostní dysplázie | Raineův syndrom |
| uk | Остеосклеротична кісткова дисплазія | Синдром Рейна |
| zh | 致死性骨硬化性骨发育不良 | Raine综合征 |
| tr | Letal osteosklerotik kemik displazisi | Raine sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 259775 | E | validated | |
| ICD-10 | Q78.2 | NTBT | attributed | validated |
| ICD-11 | LD24.1Y | NTBT | index | validated |
| MONDO | 0009821 | E | validated | |
| MeSH | C535282 | E | validated | |
| UMLS | C1850106 | E | validated | |
| GARD | 282 | E | validated | |
| MedDRA | 10087908 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93443Neonatal osteosclerotic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FAM20C | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:22140 | ENSG00000177706 | 611061 | 7p22.3 | FAM20C golgi associated secretory pathway kinase | 25019372[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 25974638[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25974638[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
20 annotations · validated 2017-08-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0000239 | Large fontanelles | |
| HP:0000369 | Low-set ears | |
| HP:0009099 | Median cleft palate | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000278 | Retrognathia | |
| HP:0000470 | Short neck | |
| Frequent (79-30%) | ||
| HP:0002094 | Dyspnea | |
| HP:0000169 | Gingival fibromatosis | |
| HP:0000212 | Gingival overgrowth | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0009939 | Mandibular aplasia | |
| HP:0000520 | Proptosis | |
| HP:0002098 | Respiratory distress | |
| HP:0002878 | Respiratory failure | |
| HP:0003196 | Short nose | |
Run the differential on the 11 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1832
- This record as JSON: /data/d/1832.json