EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity
Synonyms: EXOC6B-SEMD-JL · SEMD-JL3 · SEMDJL3 · Spondyloepimetaphyseal dysplasia with joint laxity type 3
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity | EXOC6B-SEMD-JL · SEMD-JL3 · SEMDJL3 · Spondyloepimetaphyseal dysplasia with joint laxity type 3 |
| fr | Dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire associée à EXOC6B | Dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire type 3 |
| de | EXOC6B-assoziierte spondyloepimetaphysäre Dysplasie mit Gelenkhypermobilität | Dysplasie, spondyloepimetaphysäre, mit Überstreckbarkeit der Gelenke, Typ 3 · EXOC6B-SEMD-JL · SEMD-JL3 · SEMDJL3 |
| es | Displasia espondiloepimetafisaria con laxitud articular asociada a EXOC6B | Displasia espondiloepimetafisaria con laxitud articular tipo 3 · EXOC6B-SEMD-JL · SEMD-JL3 · SEMDJL3 |
| it | Displasia spondiloepimetafisaria con lassità articolare correlata a EXOC6B | Displasia spondiloepimetafisaria con lassità articolare tipo 3 · EXOC6B-SEMD-JL · SEMD-JL3 · SEMDJL3 |
| nl | EXOC6B-gerelateerde spondylo-epimetafysaire dysplasie met gewrichtslaxiteit | EXOC6B-SEMD-JL · SEMD-JL3 · SEMDJL3 · Spondylo-epimetafysaire dysplasie met gewrichtslaxiteit type 3 |
| pt | Displasia espondiloepimetafisária com hipermobilidade articular EXOC6B-relacionada | Displasia espondiloepimetafisária com hipermobilidade articular tipo 3 · EXOC6B-SEMD-JL · SEMD-JL3 · SEMDJL3 |
| pl | Dysplazja kręgowo-nasadowo-przynasadowa z wiotkością stawów związana z EXOC6B | = en |
| cs | Spondyloepimetafyzární dysplázie s kloubní laxicitou, typ EXOC6B | = en |
| uk | EXOC6B-асоційована спондилоепіметафізарна дисплазія зі слабкістю суглобів | EXOC6B-SEMD-JL · SEMDJL3 · SEMD-JL3 · Спондилоепіметафізарна дисплазія з розхитаністю суглобів типу 3 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618395 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | attributed | validated |
| MONDO | 0032724 | E | validated | |
| UMLS | C5193073 | 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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EXOC6B | Disease-causing germline mutation(s) in | Assessed | HGNC:17085 | ENSG00000144036 | 607880 | 2p13.2 | exocyst complex component 6B | 36779427[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 36150098[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 36150098[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/642085
- This record as JSON: /data/d/642085.json