Spondyloperipheral dysplasia-short ulna syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloperipheral dysplasia-short ulna syndrome | |
| fr | Syndrome de dysplasie spondylo-périphérique-cubitus court | |
| de | Spondyloperiphere Dysplasie mit kurzer Ulna | |
| es | Síndrome de displasia espondilo periférica-cúbito corto | |
| it | Displasia spondiloperiferica-ulna corta | |
| nl | Spondyloperifere dysplasie - korte ulna-syndroom | |
| pt | Displasia espondilo-epimetafisária-cúbito curto | |
| pl | Dysplazja kręgowo-obwodowa - krótka kość łokciowa | |
| cs | Syndrom zahrnující spondyloperiferální dysplázii a krátkou loketní kost | |
| uk | Спондилопериферична дисплазія - синдром короткої ліктьової кістки | |
| zh | 脊柱周边发育不全-短尺骨综合征 | |
| tr | Spondiloperiferal displazi-kısa ulna sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 271700 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MeSH | C535799 | E | validated | |
| UMLS | C4706658 | E | validated | |
| GARD | 4994 | 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 (2):
- ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93421Type 2 collagen-related bone disorder
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL2A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2200 | ENSG00000139219 | 120140 | 12q13.11 | collagen type II alpha 1 chain | 15316962[PMID]_23545312[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23545312[PMID] |
| Cases/families | 10 families | Worldwide | Family(ies) | Validated | 23545312[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
23 annotations · validated 2020-06-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001384 | Abnormality of the hip joint | |
| HP:0005106 | Abnormality of the vertebral endplates | |
| HP:0045060 | Aplasia/hypoplasia involving bones of the extremities | |
| HP:0000175 | Cleft palate | |
| HP:0008788 | Delayed pubic bone ossification | |
| HP:0003498 | Disproportionate short stature | |
| HP:0003071 | Flattened epiphysis | |
| HP:0000365 | Hearing impairment | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0010582 | Irregular epiphyses | |
| HP:0000545 | Myopia | |
| HP:0005863 | Type E brachydactyly | |
| Occasional (29-5%) | ||
| HP:0003365 | Arthralgia of the hip | |
| HP:0010055 | Broad hallux | |
| HP:0000518 | Cataract | |
| HP:0008812 | Flattened femoral head | |
| HP:0001385 | Hip dysplasia | |
| HP:0001377 | Limited elbow extension | |
| HP:0003300 | Ovoid vertebral bodies | |
| HP:0000926 | Platyspondyly | |
| HP:0000541 | Retinal detachment | |
| HP:0010743 | Short metatarsal | |
| HP:0001883 | Talipes | |
Annotation source: 23545312[PMID]_31021589[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1856
- This record as JSON: /data/d/1856.json