SMARCA2-related blepharophimosis-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
A rare, genetic, syndromic intellectual disability disorder characterized by global developmental delay, often with severe hypotonia and limited mobility, intellectual disability (mild to severe) with absent or significantly impaired speech and behavioral problems. Craniofacial features include blepharophimosis, epicanthal folds, sparse eyebrows and eyelashes, broad nasal bridge, short nose with downturned tip, open mouth with thin upper vermillion, and abnormal ears.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SMARCA2-related blepharophimosis-intellectual disability syndrome | |
| fr | Syndrome de blépharophimosis-déficience intellectuelle associé à SMARCA2 | |
| de | SMARCA2-assoziierte Blepharophimose-Intelligenzminderung-Syndrom | |
| es | Síndrome de blefarofimosis-discapacidad intelectual asociado al gen SMARCA2 | |
| it | Sindrome blefarofimosi-disabilità intellettiva correlata a SMARCA2 | |
| nl | SMARCA2-gerelateerd blefarofimose - intellectuele achterstand-syndroom | |
| pt | Síndrome de blefarofimose-perturbação do desenvolvimento intelectual SMARCA2-relacionado | |
| pl | Zespół zwężenia szpar powiekowych - niepełnosprawności intelektualnej związany ze SMARCA2 | |
| cs | Syndrom zahrnující blefarofimózu a mentální retardaci asociovaný se SMARCA2 | |
| uk | SMARCA2-асоційований синдром блефарофімозу-інтелектуальної недостатності |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619293 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0859139 | E | validated | |
| UMLS | C5816784 | 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 (1):
- ORPHA:293642Blepharophimosis-intellectual disability syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SMARCA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11098 | ENSG00000080503 | 600014 | 9p24.3 | SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | 32694869[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 32694869[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 32694869[PMID]_ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/637013
- This record as JSON: /data/d/637013.json