ORPHA:2780
Osteopathia striata-cranial sclerosis syndrome
Synonyms: Hyperostosis generalisata with striations · Robinow-Unger syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Osteopathia striata-cranial sclerosis syndrome | Hyperostosis generalisata with striations · Robinow-Unger syndrome |
| fr | Syndrome d'ostéopathie striée-sclérose crânienne | Hyperostose généralisée striée · Syndrome de Robinow-Unger |
| de | Osteopathia striata - kraniale Sklerose | |
| es | Síndrome de osteopatía estriada-esclerosis craneal | |
| it | Osteopatia striata - sclerosi cranica | Iperostosi generalizzata striata |
| nl | Osteopathia striata - craniale sclerose-syndroom | Gegeneraliseerde hyperostose met strepen · Syndroom van Robinow-Unger |
| pt | Síndrome de osteopatia estriada-esclerose craniana | Hiperostose generalisada estriada |
| pl | Osteopathia striata - stwardnienie czaszki | Hiperostoza uogólniona z żłobieniami · Zespół Robinowa i Ungera |
| cs | Syndrom zahrnující osteopathia striata a kraniální sklerózu | Hyperostosis generalisata se striemi · Robinowův-Ungerové syndrom · Robinow-Ungerové syndrom |
| uk | Синдром остеопатії смугастої кістки - черепно-мозкового склерозу | Генералізований гіперостоз зі смугами · Синдром Робінова-Унгера |
| zh | 条纹状骨病-颅骨硬化综合征 | 全身性骨质增生伴条纹 |
| tr | Osteopati striata-kraniyal skleroz sendromu | Robinow-Unger sendromu · Çizgili hiperostoz generalisata |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300373 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD24.1Y | NTBT | index | validated |
| MONDO | 0010310 | E | validated | |
| MeSH | C536053 | E | validated | |
| UMLS | C0432268 | E | validated | |
| GARD | 4148 | 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 (4):
- ORPHA:98038Cranial malformation
rare developmental anomalies during embryogenesis - ORPHA:183542Genetic cranial malformation
rare genetic diseases - ORPHA:2781Osteopetrosis and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare transplant-related disorders - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTNNB1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:2514 | ENSG00000168036 | 116806 | 3p22.1 | catenin beta 1 | 38173341[PMID] |
| AMER1 | Disease-causing germline mutation(s) in | Assessed | HGNC:26837 | ENSG00000184675 | 300647 | Xq11.2 | APC membrane recruitment protein 1 | 19079258[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 15266607[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
44 annotations · validated 2017-06-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0005465 | Facial hyperostosis | |
| HP:0008808 | High iliac wings | |
| HP:0011001 | Increased bone mineral density | |
| HP:0008818 | Large iliac wings | |
| HP:0011002 | Osteopetrosis | |
| HP:0100670 | Rough bone trabeculation | |
| HP:0002684 | Thickened calvaria | |
| Frequent (79-30%) | ||
| HP:0000193 | Bifid uvula | |
| HP:0000175 | Cleft palate | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0005469 | Flat occiput | |
| HP:0002007 | Frontal bossing | |
| HP:0002705 | High, narrow palate | |
| HP:0000239 | Large fontanelles | |
| HP:0000256 | Macrocephaly | |
| HP:0011220 | Prominent forehead | |
| HP:0002650 | Scoliosis | |
| HP:0000176 | Submucous cleft hard palate | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001650 | Aortic valve stenosis | |
| HP:0002381 | Aphasia | |
| HP:0001555 | Asymmetry of the thorax | |
| HP:0000248 | Brachycephaly | |
| HP:0000518 | Cataract | |
| HP:0002514 | Cerebral calcification | |
| HP:0001680 | Coarctation of aorta | |
| HP:0010529 | Echolalia | |
| HP:0000286 | Epicanthus | |
| HP:0010628 | Facial palsy | |
| HP:0012368 | Flat face | |
| HP:0001263 | Global developmental delay | |
| HP:0003307 | Hyperlordosis | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0002300 | Mutism | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000278 | Retrognathia | |
| HP:0003510 | Severe short stature | |
| HP:0001328 | Specific learning disability | |
| HP:0003298 | Spina bifida occulta | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 15266607[PMID]_19079258[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2780
- This record as JSON: /data/d/2780.json