Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare overgrowth syndrome with skeletal involvement characterized by pre- or postnatal onset of overgrowth, accelerated bone age in infancy and early childhood, tall stature, bony overgrowth of the skull base, spondylar dysplasia, and undermodeling of the tubular bones. Facial dysmorphism includes mild hypertelorism, depressed nasal bridge, short and broad nose, and full lower lip. Additional reported features are scoliosis, as well as delayed puberty, cryptorchidism, and hypospadias.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome | |
| fr | Syndrome de croissance excessive-modelage métaphysaire réduit-dysplasie spondylaire | |
| de | Großwuchs-metaphysäre Untermodellierung-spondyläre Dysplasie-Syndrom | |
| es | Síndrome de sobrecrecimiento-defecto de modelado metafisario-displasia espondilar | |
| it | Sindrome iperaccrescimento - scarso modellamento delle metafisi - displasia vertebrale | |
| nl | Overgroei - verminderde metafysaire modellering - spondylaire dysplasie-syndroom | |
| pt | Síndrome de sobrecrescimento-undermodeling metafisário-displasia espondilar | |
| pl | Zespół nadmiernego wzrostu i dysplazji kręgosłupowo-przynasadowej | |
| cs | Syndrom zahrnující nadměrný růst, nedostatečnou modelací metafýz a spondylární dysplázii | |
| uk | Синдром розростання-метафізарного недомоделювання-спондилярної дисплазії | |
| zh | 过度生长-干骺端发育不良-脊柱发育不良综合征 | |
| tr | Aşırı büyüme-metafizer zayıf modelleme-spondiler displazi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608811 | E | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| ICD-11 | LD2C | NTBT | attributed | validated |
| MONDO | 0012131 | E | validated | |
| MeSH | C537355 | E | validated | |
| UMLS | C1837316 | E | validated | |
| GARD | 10066 | 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:498448Overgrowth or tall stature syndrome with skeletal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 15214018[PMID]_17618504[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15214018[PMID]_17618504[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/498485
- This record as JSON: /data/d/498485.json