Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
Synonyms: SEMD-JL1 · SEMDJL1 · Spondyloepimetaphyseal dysplasia with joint laxity type 1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare primary bone dysplasia with multiple joint dislocations characterized by stunted stature, articular hypermobility and spinal malalignment resulting in severe progressive kyphosis. Joint dislocations include bilateral dislocation of the radial heads with elbow contractures, feet (bilateral talipes equinovarus) and congenital dislocations of the hip and genu valgus. Joint laxity is particularly observed in fingers. Spinal changes include moderate platyspondyly with anterior projection of the vertebral bodies. Facial features of oval face with a flattened nasal bridge, button nose, long upper lip, prominent eyes and blue sclera are characteristic but variable. Patients may also present mild skin extensibility, spatulate terminal phalanges, lip and palate clefts, micrognathia and structural cardiac malformations.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type | SEMD-JL1 · SEMDJL1 · Spondyloepimetaphyseal dysplasia with joint laxity type 1 |
| fr | Dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire type Beighton | Dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire type 1 · SEMD-JL1 · SEMDJL1 |
| de | Dysplasie, spondyloepimetaphysäre, mit Überstreckbarkeit der Gelenke, Typ Beighton | Dysplasie, spondyloepimetaphysäre, mit Überstreckbarkeit der Gelenke, Typ 1 · SEMD-JL1 · SEMDJL1 |
| es | Displasia espondiloepimetafisaria con laxitud articular tipo Beighton | SEMD-JL1 · SEMDJL1 · Displasia espondiloepimetafisaria con laxitud articular tipo 1 |
| it | Displasia spondiloepimetafisaria con lassità articolare tipo Beighton | Displasia spondiloepimetafisaria con lassità articolare tipo 1 · SEMD-JL1 · SEMDJL1 |
| nl | Spondylo-epimetafysaire dysplasie met gewrichtslaxiteit, Beighton-type | SEMD-JL1 · SEMDJL1 · Spondylo-epimetafysaire dysplasie met gewrichtslaxiteit type 1 |
| pt | Displasia espondiloepimetafisária com hipermobilidade articular, tipo Beighton | Displasia espondiloepimetafisária com hipermobilidade articular tipo 1 · SEMD-JL1 · SEMDJL1 |
| pl | Dysplazja kręgowo-nasadowo-przynasadowa z wiotkością stawów typu Beightona | = en |
| cs | Spondyloepimetafyzární dysplázie s kloubní laxicitou, Beightonův typ | = en |
| uk | Спондилоепіметафізарна дисплазія зі слабкістю суглобів, тип Бейтона | SEMDJL1 · SEMD-JL1 · Спондилоепіметафізарна дисплазія з розхитаністю суглобів типу 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 271640 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | attributed | validated |
| MONDO | 0010075 | E | validated | |
| UMLS | C4017377 | 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:93441Primary bone dysplasia with multiple joint dislocations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2725Eye defects-arachnodactyly-cardiopathy syndrome moved to · inactive
- ORPHA:93359OBSOLETE: Spondyloepimetaphyseal dysplasia with joint laxity referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| B3GALT6 | Disease-causing germline mutation(s) in | Assessed | HGNC:17978 | ENSG00000176022 | 615291 | 1p36.33 | beta-1,3-galactosyltransferase 6 | 36779427[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 27245527[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 27245527[PMID]_ORPHANET |
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/642099
- This record as JSON: /data/d/642099.json