ORPHA:536467
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
Synonyms: B3GALT6-related spEDS · B3GALT6-related spondylodysplastic EDS · Beta3GalT6-deficient EDS · Ehlers-Danlos syndrome progeroid type 2 · spEDS-B3GALT6
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in <i>B3GALT6</i> and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, bowing of limbs and congenital or early onset, progressive kyphoscoliosis. Additional features include the typical craniofacial gestalt (prominent forehead, sparse hair, mid-face hypoplasia, blue sclerae, proptosis and abnormal dentition), hyperextensible, soft, thin, translucent and doughy skin, delayed motor and/or cognitive development, characteristic radiographic findings (spondyloepimetaphyseal dysplasia, platyspondyly, anterior beak of vertebral body, short ilia, elbow malalignment and generalized osteoporosis), joint contractures and ascending aortic aneurysm.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | B3GALT6-related spEDS · B3GALT6-related spondylodysplastic EDS · Beta3GalT6-deficient EDS · Ehlers-Danlos syndrome progeroid type 2 · spEDS-B3GALT6 |
| fr | Syndrome d'Ehlers-Danlos spondylodysplasique lié à B3GALT6 | SED par déficit en bêta-1,3-galactosyltransférase 6 · SEDsp lié à B3GALT6 · Syndrome d'Ehlers-Danlos progéroïde type 2 · spEDS-B3GALT6 |
| de | Ehlers-Danlos-Syndrom, spondylodysplastischer Typ, B3GALT6-assoziiert | B3GALT6-CDG · B3GALT6-assoziiertes spEDS · Beta3GalT6-defizientes EDS · Ehlers-Danlos-Syndrom, progeroider Typ 2 · spEDS-B3GALT6 |
| es | Síndrome de Ehlers-Danlos espondilodisplásico asociado a B3GALT6 | SED deficiente en Beta3GalT6 · Síndrome de Ehlers-Danlos tipo progeroide 2 |
| it | Sindrome di Ehlers-Danlos spondilolodisplastica correlata a B3GALT6 | EDS da deficit di Beta3GalT6 · EDS spondilodisplastica correlata a B3GALT6 · Sindrome di Ehlers-Danlos progeroide tipo 2 · spEDS correlata a B3GALT6 · spEDS-B3GALT6 |
| nl | B3GALT6-gerelateerd spondylodysplastisch syndroom van Ehlers-Danlos | B3GALT6-gerelateerd spEDS · B3GALT6-gerelateerd spondylodysplastisch EDS · Bèta3GalT6-deficiënt EDS · Syndroom van Ehlers-Danlos, progeroïd-type 2 · spEDS-B3GALT6 |
| pt | Síndrome Ehlers-Danlos espondilodisplásico B3GALT6-relacionado | Síndrome Ehlers-Danlos progeroide tipo 2 |
| pl | Zespół Ehlersa i Danlosa kręgosłupowo-dysplastyczny związany z B3GALT6 | = en |
| cs | B3GALT6-vázaný spondylodysplastický Ehlersův-Danlosův syndrom | spEDS-B3GALT6 · B3GALT6-vázaný spEDS · EDS s deficitem Beta3GalT6 · Ehlersův-Danlosův syndrom, progeroidní typ 2 · B3GALT6-vázaný spondylodysplastický Ehlers-Danlosův syndrom · Ehlers-Danlosův syndrom, progeroidní typ 2 |
| uk | B3GALT6-асоційований спондилодиспластичний синдром Елерса-Данлоса | spEDS, повязаний з B3GALT6 · B3GALT6-асоційовані спондилодиспластичні EDS · EDS з дефіцитом бета3GalT6 · Прогероїд синдрому Елерса-Данлоса 2 типу · spEDS-B3GALT6 |
| zh | B3GALT6基因相关的脊柱发育不良性埃勒斯-当洛斯综合征 | Ehlers-Danlos综合征早老症2型 |
| tr | B3GALT6-ilişkili spondilodisplastik Ehlers-Danlos sendromu | spEDS-B3GALT6 · B3GALT6 ilişkili spEDS · Beta3GalT6-eksik EDS · Ehlers-Danlos sendromu progeroid tip 2 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615349 | E | validated | |
| ICD-10 | Q79.6 | NTBT | attributed | validated |
| ICD-11 | LD28.1Y | NTBT | attributed | validated |
| MONDO | 0014139 | E | validated | |
| UMLS | C3809210 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:371195Congenital disorder of glycosylation-related bone disorder
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:309450Disorder of O-xylosylglycan synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:93446Primary bone dysplasia with decreased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:536471Spondylodysplastic Ehlers-Danlos syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare systemic and rheumatological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| B3GALT6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17978 | ENSG00000176022 | 615291 | 1p36.33 | beta-1,3-galactosyltransferase 6 | 23664117[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 41 families | Worldwide | Family(ies) | Validated | 23664117[PMID]_29931299[PMID]_23664118[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29931299[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.
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HPO phenotypes
83 annotations · validated 2020-10-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008807 | Acetabular dysplasia | |
| HP:0006487 | Bowing of the long bones | |
| HP:0010575 | Dysplasia of the femoral head | |
| HP:0002007 | Frontal bossing | |
| HP:0001382 | Joint hypermobility | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0005008 | Large joint dislocations | |
| HP:0000369 | Low-set ears | |
| HP:0003016 | Metaphyseal widening | |
| HP:0011800 | Midface retrusion | |
| HP:0002828 | Multiple joint contractures | |
| HP:0012095 | Multiple joint dislocation | |
| HP:0000938 | Osteopenia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0002757 | Recurrent fractures | |
| HP:0004993 | Slender long bones with narrow diaphyses | |
| HP:0001027 | Soft, doughy skin | |
| HP:0002651 | Spondyloepimetaphyseal dysplasia | |
| Frequent (79-30%) | ||
| HP:0001181 | Adducted thumb | |
| HP:0000463 | Anteverted nares | |
| HP:0001166 | Arachnodactyly | |
| HP:0001075 | Atrophic scars | |
| HP:0004568 | Beaking of vertebral bodies | |
| HP:0000592 | Blue sclerae | |
| HP:0000978 | Bruising susceptibility | |
| HP:0010646 | Cervical spine instability | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0010648 | Dermal translucency | |
| HP:0001822 | Hallux valgus | |
| HP:0000218 | High palate | |
| HP:0001385 | Hip dysplasia | |
| HP:0000238 | Hydrocephalus | |
| HP:0000974 | Hyperextensible skin | |
| HP:0001252 | Hypotonia | |
| HP:0000343 | Long philtrum | |
| HP:0000691 | Microdontia | |
| HP:0000347 | Micrognathia | |
| HP:0001270 | Motor delay | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0000939 | Osteoporosis | |
| HP:0003300 | Ovoid vertebral bodies | |
| HP:0006243 | Phalangeal dislocation | |
| HP:0000520 | Proptosis | |
| HP:0003196 | Short nose | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000963 | Thin skin | |
| Occasional (29-5%) | ||
| HP:0005678 | Anterior atlanto-occipital dislocation | |
| HP:0002616 | Aortic root aneurysm | |
| HP:0004970 | Ascending tubular aorta aneurysm | |
| HP:0100750 | Atelectasis | |
| HP:0003414 | Atlantoaxial dislocation | |
| HP:0012366 | Basilar invagination | |
| HP:0000670 | Carious teeth | |
| HP:0008453 | Congenital kyphoscoliosis | |
| HP:0001363 | Craniosynostosis | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000703 | Dentinogenesis imperfecta | |
| HP:0000501 | Glaucoma | |
| HP:0000946 | Hypoplastic ilia | |
| HP:0000482 | Microcornea | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0000410 | Mixed hearing impairment | |
| HP:0000545 | Myopia | |
| HP:0001562 | Oligohydramnios | |
| HP:0000768 | Pectus carinatum | |
| HP:0000767 | Pectus excavatum | |
| HP:0500087 | Peripapillary atrophy | |
| HP:0001357 | Plagiocephaly | |
| HP:0000926 | Platyspondyly | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0009726 | Renal neoplasm | |
| HP:0006522 | Repeated pneumothoraces | |
| HP:0002098 | Respiratory distress | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0001297 | Stroke | |
| HP:0012727 | Thoracic aortic aneurysm | |
| HP:0000473 | Torticollis | |
| HP:0002779 | Tracheomalacia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 29931299[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/536467
- This record as JSON: /data/d/536467.json