ORPHA:75496
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
Synonyms: B4GALT7-related spondylodysplastic EDS · EDS progeroid type 1 · EDS with short stature and limb anomalies · spEDS-B4GALT7
- 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>B4GALT7</i> and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome | B4GALT7-related spondylodysplastic EDS · EDS progeroid type 1 · EDS with short stature and limb anomalies · spEDS-B4GALT7 |
| fr | Syndrome d'Ehlers-Danlos spondylodysplasique lié à B4GALT7 | EDS progéroïde type 1 · SED avec petite taille et anomalies des membres · SED progéroïde type 1 · SED spondylodysplasique lié à B4GALT7 · SEDsp lié à B4GALT7 · spEDS-B4GALT7 |
| de | B4GALT7-assoziiertes spondylodysplastisches Ehlers-Danlos-Syndrom | B4GALT7-CDG · B4GALT7-abhängiges spondylodysplastisches EDS · EDS mit Kleinwuchs und Extremitätenanomalien · EDS, progeroider Typ · EDS, progeroider Typ 1 · PDS · Proteodermatansulfat-Biosynthesedefekt · Xylosylprotein 4-beta-Galactosyltransferase-Mangel · spEDS-B4GALT7 |
| es | Síndrome de Ehlers-Danlos espondilodisplásico asociado a B4GALT7 | SED con talla baja y anomalías de las extremidades · SED espondilodisplásico asociado a B4GALT7 · SED tipo progeroide 1 |
| it | Sindrome di Ehlers-Danlos spondilodisplastica correlata a B4GALT7 | B4GALT7-CDG · Deficit di XGPT · Deficit di galattosiltransferasi I · Deficit di xilosilproteina 4-beta-galattosiltransferasi · Difetto della biosintesi del proteodermatan solfato · EDS, tipo progeroide · PDS |
| nl | B4GALT7-gerelateerd spondylodysplastisch syndroom van Ehlers-Danlos | B4GALT7-gerelateerd spondylodysplastisch EDS · EDS met kleine gestalte en ledemaatanomalieën · EDS, progeroïd type 1 · spEDS-B4GALT7 |
| pt | Síndrome Ehlers-Danlos espondilodisplásico B4GALT7-relacionado | Biossíntese deficiente de sulfato de proteodermatano · Deficiência de galactosiltransferase I · Deficiência de xilosilproteína 4-beta-galactosiltransferase · Síndrome Ehlers-Danlos progeróide tipo 1 |
| pl | Zespół Ehlersa i Danlosa, typ progeroidalny | B4GALT7-CDG · Defekt biosyntezy siarczynu proteodermatanu · EDS, typ progeroidalny · Niedobór 4-beta-galaktozylotransferazy ksylozylproteiny · Niedobór galaktozylotransferazy I · Niedobór XGPT · PDS |
| cs | Ehlersův-Danlosův syndrom, progeroidní typ | B4GALT7-CDG · Defektní biosyntéza proteodermatan sulfátu · EDS, progeroidní typ · Deficit galaktosyltransferázy I · PDS · Deficit XGPT · Deficit xylosylprotein 4-beta-galaktosyltransferázy · Ehlers-Danlosův syndrom, progeroidní typ |
| uk | B4GALT7-асоційований спондилодиспластичний синдром Елерса-Данлоса | B4GALT7-асоційовані спондилодиспластичні ЕДС · ЕДС прогероїдного типу 1 · ЕДС з низьким зростом та аномаліями кінцівок · spEDS-B4GALT7 |
| zh | B4GALT7相关脊柱发育不良型Ehlers-Danlos综合征 | EDS伴身材矮小和肢体畸形 |
| tr | B4GALT7-ilişkili spondilodisplastik Ehlers-Danlos sendromu | spEDS-B4GALT7 · EDS progeroid tip 1 · B4GALT7-ilişkili spondilodisplastik EDS · Kısa boy ve ekstremite anomali ile seyreden EDS |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 130070 | ND | validated | |
| ICD-10 | Q79.6 | NTBT | attributed | validated |
| ICD-11 | LD28.1Y | NTBT | attributed | validated |
| MONDO | 0007526 | E | validated | |
| MeSH | C536201 | E | validated | |
| UMLS | C5680137 | 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 (6):
- 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:536471Spondylodysplastic Ehlers-Danlos syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare systemic and rheumatological diseases - ORPHA:93459Syndrome with synostosis or other joint formation defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:294049Reunion Island Larsen-like syndrome moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| B4GALT7 | Disease-causing germline mutation(s) in | Assessed | HGNC:930 | ENSG00000027847 | 604327 | 5q35.3 | beta-1,4-galactosyltransferase 7 | 15211654[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_26940150[PMID] |
| Cases/families | 34 cases | Worldwide | Case(s) | Validated | 26940150[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
37 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001650 | Aortic valve stenosis | |
| HP:0001166 | Arachnodactyly | |
| HP:0000028 | Cryptorchidism | |
| HP:0000973 | Cutis laxa | |
| HP:0000286 | Epicanthus | |
| HP:0001371 | Flexion contracture | |
| HP:0000230 | Gingivitis | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0000974 | Hyperextensible skin | |
| HP:0001252 | Hypotonia | |
| HP:0009125 | Lipodystrophy | |
| HP:0010511 | Long toe | |
| HP:0000256 | Macrocephaly | |
| HP:0007469 | Palmoplantar cutis gyrata | |
| HP:0001763 | Pes planus | |
| HP:0005328 | Progeroid facial appearance | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0004322 | Short stature | |
| HP:0100813 | Testicular torsion | |
| HP:0000963 | Thin skin | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0001075 | Atrophic scars | |
| HP:0000987 | Atypical scarring of skin | |
| HP:0000160 | Narrow mouth | |
| HP:0000938 | Osteopenia | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0045075 | Sparse eyebrow | |
| HP:0000653 | Sparse eyelashes | |
| HP:0002209 | Sparse scalp hair | |
| HP:0000506 | Telecanthus | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0006481 | Abnormality of primary teeth | |
| HP:0001382 | Joint hypermobility | |
| HP:0002751 | Kyphoscoliosis | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/75496
- This record as JSON: /data/d/75496.json