Sclerosteosis
Synonyms: Cortical hyperostosis-syndactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Neonatal
- Status
- active
Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sclerosteosis | Cortical hyperostosis-syndactyly syndrome |
| fr | Sclérostéose | Syndrome d'hyperostose corticale-syndactylie |
| de | Sklerosteose | Hyperostosis corticalis mit Syndaktylie |
| es | Esclerosteosis | Hiperostosis cortical sindactilia |
| it | Sclerosteosi | Iperostosi corticale - sindattilia |
| nl | Sclerosteose | Corticale hyperostose - syndactylie-syndroom |
| pt | Esclerosteose | Síndrome de hiperostose cortical-sindactilia |
| pl | Sklerosteoza | Hiperostoza korowa - syndaktylia |
| cs | Sklerosteóza | Syndrom zahrnující kortikální hyperostózu a syndaktylii |
| uk | Склеростеоз | Синдром кортикального гіперостозу-синдактилії |
| zh | 硬化性狭窄 | 骨皮质增生-并指(趾)综合征 |
| tr | Sklerosteoz | Kortikal hiperostoz-sindaktili sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 269500 | BTNT | validated | |
| OMIM | 614305 | BTNT | validated | |
| ICD-10 | M85.2 | NTBT | attributed | validated |
| ICD-11 | LD24.1Y | NTBT | index | validated |
| MONDO | 0017838 | E | validated | |
| MeSH | C537525 | E | validated | |
| UMLS | C0265301 | E | validated | |
| GARD | 4771 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93444Primary bone dysplasia with increased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SOST | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13771 | ENSG00000167941 | 605740 | 17q21.31 | sclerostin | 20301406[PMID] |
| LRP4 | Disease-causing germline mutation(s) in | Assessed | HGNC:6696 | ENSG00000134569 | 604270 | 11p11.2 | LDL receptor related protein 4 | 21471202[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 80 cases | Worldwide | Case(s) | Validated | 20301406[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20301406[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.
HPO phenotypes
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001233 | 2-3 finger syndactyly | |
| HP:0003103 | Abnormal cortical bone morphology | |
| HP:0000366 | Abnormality of the nose | |
| HP:0004493 | Craniofacial hyperostosis | |
| HP:0009838 | Curved distal phalanges of the hand | |
| HP:0005019 | Diaphyseal thickening | |
| HP:0006101 | Finger syndactyly | |
| HP:0100798 | Fingernail dysplasia | |
| HP:0011001 | Increased bone mineral density | |
| HP:0000098 | Tall stature | |
| Frequent (79-30%) | ||
| HP:0010628 | Facial palsy | |
| HP:0000508 | Ptosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| Occasional (29-5%) | ||
| HP:0000648 | Optic atrophy | |
Run the differential on the 10 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3152
- This record as JSON: /data/d/3152.json