SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
Synonyms: SCD-EDS · SLC39A13-related spEDS · SLC39A13-related spondylodysplastic EDS · Spondylocheirodysplastic Ehlers-Danlos syndrome · spEDS-SLC39A13
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A form of spondylodysplastic Ehlers-Danlos syndrome (EDS) due to variants in the <i>SLC39A13</i> gene and characterized by the presence of thin and finely wrinkled skin of the hands and feet, hypermobile distal joints, characteristic facial features (downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia or oligodontia), muscular hypotonia, associated with significant short stature of childhood-onset, ocular findings (myopia and keratoconus) and, more rarely, vascular complications. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | SCD-EDS · SLC39A13-related spEDS · SLC39A13-related spondylodysplastic EDS · Spondylocheirodysplastic Ehlers-Danlos syndrome · spEDS-SLC39A13 |
| fr | Syndrome d'Ehlers-Danlos spondylodysplasique lié à SLC39A13 | SED spondylodysplasique lié à SLC39A13 · SED type spondylo-cheiro-dysplasique · SEDsp lié à SLC39A13 · spEDS-SLC39A13 |
| de | SLC39A13-assoziiertes spondylodysplastisches Ehlers-Danlos-Syndrom | SLC39A13-abhängiges spEDS · SLC39A13-assoziiertes spondylodysplastisches EDS · spEDS-SLC39A13 · Ehlers-Danlos-Syndrom, spondylo-cheiro dysplastische Form · SCD-EDS |
| es | Síndrome de Ehlers-Danlos espondilodisplásico asociado a SLC391A13 | SED espondilodisplásico asociado a SLC391A13 · Síndrome de Ehlers-Danlos displásico espondiloqueiral |
| it | Sindrome di Ehlers-Danlos spondilodisplastica correlata a SLC39A13 | EDS, tipo spondilo-cheiro-displasico |
| nl | SLC39A13-gerelateerd spondylodysplastisch syndroom van Ehlers-Danlos | SCD-EDS · SLC39A13-gerelateerd spEDS · SLC39A13-gerelateerd spondylodysplastisch EDS · Spondylocheirodysplastisch syndroom van Ehlers-Danlos · spEDS-SLC39A13 |
| pt | Síndrome Ehlers-Danlos espondilodisplásico SLC39A13-relacionado | Síndrome Ehlers-Danlos forma displásica espondiloqueirótica |
| pl | Zespół Ehlersa i Danlosa typu kręgowo-dłoniowo-dysplastycznego | EDS, typ kręgowo-dłoniowo-dysplastyczny |
| cs | Ehlersův-Danlosův syndrom, spondylocheirodysplastický typ | EDS, spondylocheirodysplastický typ · Ehlers-Danlosův syndrom, spondylocheirodysplastický typ |
| uk | SLC39A13-асоційований спондилодиспластичний синдром Елерса-Данлоса | SCD-EDS · spEDS, повязаний з SLC39A13 · SLC39A13-асоційована спондилодиспластична EDS · spEDS-SLC39A13 · Спондилохейродиспластичний синдром Елерса-Данлоса |
| zh | SLC39A13基因相关脊柱畸形 Ehlers-Danlos 综合征 | 脊柱畸形型Ehlers-Danlos 综合征 |
| tr | SLC39A13-ilişkili spondilodisplastik Ehlers-Danlos sendromu | SCD-EDS · spEDS-SLC39A13 · SLC39A13-ilişkili spEDS · SLC39A13-ilişkili spondilodisplastik EDS · Spondilokirodisplastik Ehlers-Danlos sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612350 | E | validated | |
| ICD-10 | Q79.6 | NTBT | attributed | validated |
| ICD-11 | LD28.1Y | NTBT | attributed | validated |
| MONDO | 0012873 | E | validated | |
| MeSH | C567340 | E | validated | |
| UMLS | C2676510 | 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 (3):
- ORPHA:519296Rare disorder with pigmented sclera
rare genetic diseases; rare ophthalmic disorders - ORPHA:536471Spondylodysplastic Ehlers-Danlos syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare systemic and rheumatological 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 |
|---|---|---|---|---|---|---|---|---|
| SLC39A13 | Disease-causing germline mutation(s) in | Assessed | HGNC:20859 | ENSG00000165915 | 608735 | 11p11.2 | solute carrier family 39 member 13 | 18513683[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 18513683[PMID]_18985159[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18513683[PMID]_18985159[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
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000592 | Blue sclerae | |
| HP:0000978 | Bruising susceptibility | |
| HP:0001508 | Failure to thrive | |
| HP:0000974 | Hyperextensible skin | |
| HP:0008848 | Moderately short stature | |
| HP:0000520 | Proptosis | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0000963 | Thin skin | |
| Frequent (79-30%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0010489 | Absent palmar crease | |
| HP:0006429 | Broad femoral neck | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0003370 | Flat capital femoral epiphysis | |
| HP:0003071 | Flattened epiphysis | |
| HP:0000938 | Osteopenia | |
| HP:0000926 | Platyspondyly | |
| HP:0100864 | Short femoral neck | |
| HP:0001182 | Tapered finger | |
| HP:0003393 | Thenar muscle atrophy | |
| Occasional (29-5%) | ||
| HP:0001371 | Flexion contracture | |
Run the differential on the 8 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/157965
- This record as JSON: /data/d/157965.json