Steel syndrome
Synonyms: Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Steel syndrome | Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome |
| fr | Syndrome de Steel | Syndrome de luxation bilatérale de la hanche et de la tête radiale-petite taille-scoliose-coalition carpienne-pieds creux-dysmorphie faciale |
| de | Steel-Syndrom | Beidseitige Hüft- und Radiusköpfchen-Dislokation-Kleinwuchs-Skoliose-Karpalfusionen-Pes cavus-Gesichtsdysmorphie-Syndrom |
| es | Síndrome de Steel | Síndrome de luxación bilateral de la cadera y la cabeza radial-talla baja-escoliosis-coaliciones carpales-pie cavo-dismorfia facial |
| it | Sindrome di Steel | Sindrome lussazione bilaterale del capitello radiale e dell'anca-bassa statura-scoliosi-fusione dei carpi-piede cavo-dismorfismi facciali |
| nl | Syndroom van Steel | Bilaterale luxaties van heup en radiuskop - kleine gestalte - scoliose - carpale coalities - pes cavus - faciale dysmorfie-syndroom |
| pt | Síndrome de Steel | |
| pl | Zespół Steela | Zespół obustronnych zwichnięć bioder i głowy kości promieniowej, niskiego wzrostu, skoliozy, zrostów kości nadgarstka, stopy wydrążonej i dysmorfii twarzy |
| cs | Steelův syndrom | Syndrom zahrnující bilaterální luxaci kyčle a hlavice radia, malý vzrůst, skoliózu, fúzi karpálních kůstek, pes cavus a faciální dysmorfismus |
| uk | Синдром Стіла | Синдром двостороннього вивиху стегна та головки променевої кістки - низькорослості - сколіозу - коаліції запястка - pes cavus - дисморфізму обличчя |
| zh | Steel 综合征 | 双侧髋关节和桡骨骨头脱位-身材矮小-脊柱侧凸-腕骨联合-高足弓-面部畸形综合征 |
| tr | Steel sendromu | İki taraflı kalça ve radyal kafa çıkıkları-kısa boy-skolyozis-karpal koalisyonlar-pes kavus-fasiyal dismorfizm sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615155 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD24.E | NTBT | attributed | validated |
| MONDO | 0014061 | E | validated | |
| UMLS | C3554594 | 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:93441Primary bone dysplasia with multiple joint dislocations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL27A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:22986 | ENSG00000196739 | 608461 | 9q32 | collagen type XXVII alpha 1 chain | 24986830[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 8423186[PMID]_20357596[PMID]_24986830[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8423186[PMID]_20357596[PMID]_24986830[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/438117
- This record as JSON: /data/d/438117.json