ORPHA:464738
Basel-Vanagaite-Smirin-Yosef syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare, genetic intellectual disability syndrome characterized by severe global developmental delay with intellectual disability, microcephaly, growth retardation, ocular defects such as congenital cataract, and nevus flammeus simplex on the forehead. Cardiac, urogenital, and skeletal abnormalities, as well as seizures are present in most patients. Dysmorphic craniofacial features include sparse hair, downslanting palpebral fissures, hypertelorism, broad and overhanging nasal tip and short philtrum, among others.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Basel-Vanagaite-Smirin-Yosef syndrome | |
| fr | Syndrome de Basel-Vanagaite-Smirin-Yosef | |
| de | Basel-Vanagaite-Smirin-Yosef-Syndrom | |
| es | Síndrome de Basel-Vanagaite-Smirin-Yosef | |
| it | Sindrome di Basel-Vanagaite-Smirin-Yosef | |
| nl | Syndroom van Basel-Vanagaite-Smirin-Yosef | |
| pt | Síndrome Basel-Vanagaite-Smirin-Yosef | |
| pl | Zespół Basel-Vanagaite i Smirin-Yosef | |
| cs | Syndrom zahrnující vrozenou kataraktu, mikrocefalii, nevus flammeus simplex a těžkou mentální retardaci | |
| uk | Синдром Базеля-Ванагайта-Сміріна-Йосефа | |
| zh | 先天性白内障-小头畸形-单纯性痣-严重智力障碍综合征 | |
| tr | Doğumsal katarakt-mikrosefali-nevüs flammeus simpleks-ağır zihinsel yetersizlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616449 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014643 | E | validated | |
| UMLS | C4225323 | 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 (4):
- 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:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MED25 | Disease-causing germline mutation(s) in | Assessed | HGNC:28845 | ENSG00000104973 | 610197 | 19q13.33 | mediator complex subunit 25 | 25792360[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | 25792360[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25792360[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
69 annotations · validated 2020-01-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002540 | Inability to walk | |
| HP:0007413 | Nevus flammeus of the forehead | |
| HP:0011344 | Severe global developmental delay | |
| Frequent (79-30%) | ||
| HP:0001344 | Absent speech | |
| HP:0000519 | Developmental cataract | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0002263 | Exaggerated cupid's bow | |
| HP:0000348 | High forehead | |
| HP:0000316 | Hypertelorism | |
| HP:0000047 | Hypospadias | |
| HP:0001252 | Hypotonia | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000252 | Microcephaly | |
| HP:0000482 | Microcornea | |
| HP:0002465 | Poor speech | |
| HP:0005274 | Prominent nasal tip | |
| HP:0000508 | Ptosis | |
| HP:0001250 | Seizure | |
| HP:0000322 | Short philtrum | |
| HP:0045075 | Sparse eyebrow | |
| HP:0002209 | Sparse scalp hair | |
| HP:0010804 | Tented upper lip vermilion | |
| Occasional (29-5%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0001181 | Adducted thumb | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000718 | Aggressive behavior | |
| HP:0000646 | Amblyopia | |
| HP:0000463 | Anteverted nares | |
| HP:0001631 | Atrial septal defect | |
| HP:0010186 | Broad distal phalanx of the toes | |
| HP:0002389 | Cavum septum pellucidum | |
| HP:0002059 | Cerebral atrophy | |
| HP:0001081 | Cholelithiasis | |
| HP:0000175 | Cleft palate | |
| HP:0030084 | Clinodactyly | |
| HP:0002019 | Constipation | |
| HP:0009471 | Contracture of the proximal interphalangeal joint of the 3rd finger | |
| HP:0009468 | Deviation of the 2nd finger | |
| HP:0007082 | Dilated third ventricle | |
| HP:0006101 | Finger syndactyly | |
| HP:0000221 | Furrowed tongue | |
| HP:0001288 | Gait disturbance | |
| HP:0008499 | High hypermetropia | |
| HP:0002705 | High, narrow palate | |
| HP:0000126 | Hydronephrosis | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000023 | Inguinal hernia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0002808 | Kyphosis | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0011670 | Left superior vena cava draining to coronary sinus | |
| HP:0000369 | Low-set ears | |
| HP:0032077 | Male urethral meatus stenosis | |
| HP:0000568 | Microphthalmia | |
| HP:0010557 | Overlapping fingers | |
| HP:0001845 | Overlapping toe | |
| HP:0000768 | Pectus carinatum | |
| HP:0001761 | Pes cavus | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0000278 | Retrognathia | |
| HP:0002650 | Scoliosis | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0001257 | Spasticity | |
| HP:0000486 | Strabismus | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 25792360[PMID]_25527630[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/464738
- This record as JSON: /data/d/464738.json