ORPHA:536471
Spondylodysplastic Ehlers-Danlos syndrome
Synonyms: Spondylodysplastic EDS · spEDS
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare connective tissue disorder for which three subtypes exist, either related to the gene <i>B4GALT7</i>, <i>B3GALT6</i> or <i>SLC39A13</i>, and for which the clinically overlapping characteristics include short stature (progressive in childhood), small joint hypermobility, skin hyperextensibility with soft, doughy skin especially on the hands and feet muscular hypotonia (ranging from congenitally severe to mild with later_onset), skeletal anomalies and, more variably, osteopenia, delayed motor development and bowing of the limbs. Gene-specific features, with variable presentation, are additionally observed in each subtype.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondylodysplastic Ehlers-Danlos syndrome | Spondylodysplastic EDS · spEDS |
| fr | Syndrome d'Ehlers-Danlos spondylodysplasique | SED spondylodysplasique · SEDsp |
| de | Ehlers-Danlos-Syndrom, spondylodysplastischer Typ | EDS, spondylodysplastisches · spEDS |
| es | Síndrome de Ehlers-Danlos espondilodisplásico | SED espondilodisplásico |
| it | Sindrome di Ehlers-Danlos spondilodisplastica | |
| nl | Spondylodysplastisch syndroom van Ehlers-Danlos | Spondylodysplastisch EDS · spEDS |
| pt | Síndrome Ehlers-Danlos espondilodisplásico | |
| pl | Zespół Ehlersa i Danlosa kręgosłupowo-dysplastyczny | = en |
| cs | Spondylodysplastický Ehlers-Danlosův syndrom | = en |
| uk | Спондилодиспластичний синдром Елерса-Данлоса | spEDS · Спондилодиспластична EDS |
| zh | 脊柱发育不良性埃勒斯-当洛斯综合征 | = en |
| tr | Spondilodisplastik Ehlers-Danlos sendromu | spEDS · Spondilodisplastik EDS |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 130070 | BTNT | validated | |
| OMIM | 612350 | BTNT | validated | |
| OMIM | 615349 | BTNT | validated | |
| ICD-10 | Q79.6 | NTBT | attributed | validated |
| ICD-11 | LD28.1Y | NTBT | attributed | validated |
| MONDO | 0034021 | E | validated | |
| UMLS | C5680154 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98249Ehlers-Danlos syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare systemic and rheumatological diseases
4
Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| B3GALT6 | ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17978 | ENSG00000176022 | 615291 | 1p36.33 | beta-1,3-galactosyltransferase 6 | 23664117[PMID] |
| B4GALT7 | ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:930 | ENSG00000027847 | 604327 | 5q35.3 | beta-1,4-galactosyltransferase 7 | 15211654[PMID] |
| SLC39A13 | ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome | Disease-causing germline mutation(s) in | Assessed | HGNC:20859 | ENSG00000165915 | 608735 | 11p11.2 | solute carrier family 39 member 13 | 18513683[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29931299[PMID]_26940150[PMID]_18513683[PMID]_18985159[PMID] |
| Cases/families | 24 families | Worldwide | Family(ies) | Validated | 29931299[PMID]_26940150[PMID]_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.
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HPO phenotypes
105 annotations · validated 2019-11-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002761 | Generalized joint hypermobility | |
| HP:0002751 | Kyphoscoliosis | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0001167 | Abnormality of finger | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0000592 | Blue sclerae | |
| HP:0008453 | Congenital kyphoscoliosis | |
| HP:0012368 | Flat face | |
| HP:0001371 | Flexion contracture | |
| HP:0002007 | Frontal bossing | |
| HP:0001263 | Global developmental delay | Diagnostic criterion |
| HP:0001385 | Hip dysplasia | |
| HP:0000974 | Hyperextensible skin | Diagnostic criterion |
| HP:0000316 | Hypertelorism | |
| HP:0000946 | Hypoplastic ilia | |
| HP:0001252 | Hypotonia | Diagnostic criterion |
| HP:0002659 | Increased susceptibility to fractures | |
| HP:0001373 | Joint dislocation | |
| HP:0001382 | Joint hypermobility | |
| HP:0000369 | Low-set ears | |
| HP:0002828 | Multiple joint contractures | |
| HP:0000938 | Osteopenia | Diagnostic criterion |
| HP:0001763 | Pes planus | Diagnostic criterion |
| HP:0000926 | Platyspondyly | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000520 | Proptosis | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | Diagnostic criterion |
| HP:0004993 | Slender long bones with narrow diaphyses | |
| HP:0000977 | Soft skin | Diagnostic criterion |
| HP:0001027 | Soft, doughy skin | Diagnostic criterion |
| HP:0001762 | Talipes equinovarus | |
| HP:0000963 | Thin skin | Diagnostic criterion |
| HP:0000325 | Triangular face | |
| Occasional (29-5%) | ||
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0003368 | Abnormality of the femoral head | |
| HP:0000463 | Anteverted nares | |
| HP:0001075 | Atrophic scars | |
| HP:0004568 | Beaking of vertebral bodies | |
| HP:0006487 | Bowing of the long bones | Diagnostic criterion |
| HP:0000337 | Broad forehead | |
| HP:0000175 | Cleft palate | |
| HP:0000973 | Cutis laxa | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0010575 | Dysplasia of the femoral head | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0003015 | Flared metaphysis | |
| HP:0003370 | Flat capital femoral epiphysis | |
| HP:0040160 | Generalized osteoporosis | |
| HP:0000365 | Hearing impairment | |
| HP:0011332 | Hemifacial hypoplasia | |
| HP:0008499 | High hypermetropia | |
| HP:0000343 | Long philtrum | |
| HP:0011341 | Long upper lip | |
| HP:0100255 | Metaphyseal dysplasia | |
| HP:0003016 | Metaphyseal widening | |
| HP:0000347 | Micrognathia | |
| HP:0001270 | Motor delay | Diagnostic criterion |
| HP:0000160 | Narrow mouth | |
| HP:0003048 | Radial head subluxation | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000894 | Short clavicles | |
| HP:0100864 | Short femoral neck | |
| HP:0003196 | Short nose | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0002209 | Sparse scalp hair | |
| HP:0001772 | Talipes equinovalgus | |
| Very rare (<4-1%) | ||
| HP:0040047 | Abnormality of the right hemidiaphragm | |
| HP:0010754 | Abnormality of the temporomandibular joint | |
| HP:0008807 | Acetabular dysplasia | |
| HP:0012687 | Agenesis of pineal gland | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0004970 | Ascending tubular aorta aneurysm | |
| HP:0001631 | Atrial septal defect | |
| HP:0007957 | Corneal opacity | |
| HP:0003417 | Coronal cleft vertebrae | |
| HP:0000028 | Cryptorchidism | |
| HP:0100777 | Exostoses | |
| HP:0000501 | Glaucoma | |
| HP:0001822 | Hallux valgus | |
| HP:0000135 | Hypogonadism | |
| HP:0000023 | Inguinal hernia | |
| HP:0000612 | Iris coloboma | |
| HP:0001004 | Lymphedema | |
| HP:0000485 | Megalocornea | |
| HP:0000545 | Myopia | |
| HP:0001054 | Numerous nevi | |
| HP:0000588 | Optic disc coloboma | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0009944 | Partial duplication of thumb phalanx | |
| HP:0002999 | Patellar dislocation | |
| HP:0000768 | Pectus carinatum | |
| HP:0007787 | Posterior subcapsular cataract | |
| HP:0001043 | Prominent scalp veins | |
| HP:0000508 | Ptosis | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0002091 | Restrictive ventilatory defect | |
| HP:0004442 | Sagittal craniosynostosis | |
| HP:0000486 | Strabismus | |
| HP:0004269 | Subluxation of the small joints of the hand | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 29931299[PMID]_28882145[PMID]_31614862[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/536471
- This record as JSON: /data/d/536471.json