Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
historical
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings. There have been no further description in the literature since 1990.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome | |
| fr | Syndrome de dysplasie spondylo-métaphysaire-hypotrichose | |
| de | Spondyloepimetaphysäre Dysplasie-Hypotrichose-Syndrom | |
| es | Síndrome de displasia espondiloepimetafisaria-hipotricosis | |
| it | Sindrome da displasia spondiloepimetafisaria ed ipotricosi | |
| nl | Spondylo-epimetafysaire dysplasie - hypotrichose-syndroom | |
| pt | Displasia espondiloepimetafisária - hipotricose | |
| pl | Zespół dysplazji kręgowo-nasadowo-przynasadowej i hipotrichozy | |
| cs | Syndrom zahrnující spondyloepimetafyzární dysplázii a hypotrichózu | |
| uk | Синдром спондилоепіметафізарної дисплазії-гіпотрихозу | |
| zh | 脊柱干骺端发育不良-毛发减少综合征 | |
| tr | Spondiloepimetafizyal displazi-hipotrikoz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 183849 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0008469 | E | validated | |
| MeSH | C535783 | E | validated | |
| UMLS | C1866728 | E | validated | |
| GARD | 10101 | 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:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
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 | 5 cases | Worldwide | Case(s) | Validated | 2363424[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2363424[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/168443
- This record as JSON: /data/d/168443.json