ORPHA:178377
Osteosclerosis-developmental delay-craniosynostosis syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Osteosclerosis-developmental delay-craniosynostosis syndrome | |
| fr | Syndrome d'ostéosclérose-retard de développement-craniosynostose | |
| de | Osteosklerose-Entwicklungsverzögerung-Kraniosynostose-Syndrom | |
| es | Síndrome de osteoesclerosis-retraso del desarrollo-craneosinostosis | |
| it | Osteosclerosi - ritardo dello sviluppo - craniosinostosi | |
| nl | Osteosclerose - ontwikkelingsachterstand - craniosynostose | |
| pt | Síndrome de osteosclerose-perturbação do desenvolvimento-craniossinostose | |
| pl | Osteoskleroza- opóźnienie rozwoju - kraniosynostoza | |
| cs | Syndrom zahrnující osteosklerózu, opožděný vývoj a kraniosynostózu | |
| uk | Синдром остеосклерозу-затримки розвитку-краніосиностозу | |
| zh | 骨硬化-发育迟缓-颅缝早闭综合征 | |
| tr | Osteoskleroz-gelişme geriliği-kraniyosinostoz sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q75.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0015800 | E | validated | |
| UMLS | C4302818 | 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:139393Syndromic craniosynostosis
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 |
|---|---|---|---|---|---|---|---|---|
| LRP5 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:6697 | ENSG00000162337 | 603506 | 11q13.2 | LDL receptor related protein 5 | 15940380[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | 15940380[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15940380[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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000248 | Brachycephaly | |
| HP:0000337 | Broad forehead | |
| HP:0012802 | Broad jaw | |
| HP:0000348 | High forehead | |
| HP:0000316 | Hypertelorism | |
| HP:0011001 | Increased bone mineral density | |
| HP:0000256 | Macrocephaly | |
| HP:0002684 | Thickened calvaria | |
| Frequent (79-30%) | ||
| HP:0001363 | Craniosynostosis | |
| Occasional (29-5%) | ||
| HP:0010628 | Facial palsy | |
| HP:0002315 | Headache | |
| HP:0000365 | Hearing impairment | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0011342 | Mild global developmental delay | |
| HP:0000648 | Optic atrophy | |
| HP:0000505 | Visual impairment | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/178377
- This record as JSON: /data/d/178377.json