Melorheostosis with osteopoikilosis
Synonyms: MSBD syndrome · Mixed sclerosing bone dystrophy
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Melorheostosis with osteopoikilosis | MSBD syndrome · Mixed sclerosing bone dystrophy |
| fr | Mélorhéostose avec ostéopoecilie | Dystrophie osseuse sclérosante mixte · Mélorhéostose avec ostéopoïkilose · Syndrome MSBD |
| de | Melorheostose mit Osteopoikilosis | Knochendystrophie, gemischte sklerotisierende · MSBD-Syndrom |
| es | Melorreostosis con osteopoiquilia | Distrofia ósea esclerosante mixta · Síndrome MSBD |
| it | Meloreostosi con osteopoichilosi | Distrofia ossea sclerosante mista · Sindrome MSBD |
| nl | Melorheostose met osteopoikilose | Gemengde scleroserende botdystrofie · MSBD-syndroom |
| pt | Melorreostose com com osteopoiquilose | Distrofia óssea esclerosante mista · Síndrome MSBD |
| pl | Meloreostoza z osteopoikilią | Mieszana stwardniająca dystrofia kości · Zespół MSBD |
| cs | Melorheostóza s osteopoikilózou | MSBD syndrom · Smíšená sklerozující kostní dystrofie |
| uk | Мелореостоз з остеопойкілозом | Змішана склерозуюча кісткова дистрофія · Синдром MSBD |
| zh | 肢骨纹状肥大伴全身脆性骨硬化 | 混合型骨硬化性营养不良 |
| tr | Osteopoikilozlu melorheostoz | MSBD sendromu · Karma sklerozan kemik distrofisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 166700 | NTBT | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.1Y | NTBT | index | validated |
| MONDO | 0015995 | E | validated | |
| MeSH | C563593 | E | validated | |
| UMLS | C3149695 | E | validated | |
| GARD | 3690 | 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:2781Osteopetrosis and related disorders
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LEMD3 | Disease-causing germline mutation(s) in | Assessed | HGNC:28887 | ENSG00000174106 | 607844 | 12q14.3 | LEM domain containing 3 | 15489854[PMID]_17087626[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 5 families | Worldwide | Family(ies) | Validated | [EXPERT] |
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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003103 | Abnormal cortical bone morphology | |
| HP:0010001 | Complete duplication of the distal phalanges of the hand | |
| HP:0010739 | Osteopoikilosis | |
| Occasional (29-5%) | ||
| HP:0000951 | Abnormality of the skin | |
| HP:0000822 | Hypertension | |
| HP:0001012 | Multiple lipomas | |
| HP:0001482 | Subcutaneous nodule | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1879
- This record as JSON: /data/d/1879.json