ORPHA:293642
Blepharophimosis-intellectual disability syndrome
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare group of syndromic intellectual disabilities characterized by global developmental delay (DD)/intellectual disability (ID), blepharophimosis and other craniofacial dysmorphisms, and organ anomalies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Blepharophimosis-intellectual disability syndrome | |
| fr | Syndrome de blépharophimosis-déficience intellectuelle | |
| de | Blepharophimose-Intelligenzminderung-Syndrom | |
| es | Síndrome de blefarofimosis-discapacidad intelectual | |
| it | Sindrome blefarofimosi-deficit cognitivo | BMRS |
| nl | Blefarofimose - intellectuele achterstand-syndroom | |
| pt | Síndrome de blefarofimose-perturbação do desenvolvimento intelectual | |
| pl | Zespół zwężenie szpar powiekowych-niepełnosprawność intelektualna | BMRS |
| cs | Syndrom zahrnující blefarofimózu a mentální retardaci | BMRS |
| uk | Синдром блефарофімозу-інтелектуальної недостатності | BMRS |
| zh | 睑裂-智力障碍综合征 | 睑裂-智力发育迟缓综合征 |
| tr | Blefarofimoz-zihinsel yetersizlik sendromu | BMRS |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017393 | E | validated | |
| MONDO | 17393 | E | validated | |
| UMLS | C5229849 | E | validated | |
| GARD | 10892 | 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 (3):
- 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:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
Children (8):
- ORPHA:700160ADNP-related blepharophimosis-intellectual disability syndrome
- ORPHA:293707Blepharophimosis-intellectual disability syndrome, MKB type
- ORPHA:2728Blepharophimosis-intellectual disability syndrome, Ohdo type
- ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS type
- ORPHA:293725Blepharophimosis-intellectual disability syndrome, Verloes type
- ORPHA:720321Developmental delay-blepharophimosis-telecanthus-facial dysmorphism-intellectual disability syndrome
- ORPHA:1620Distal deletion 3p syndrome
- ORPHA:637013SMARCA2-related blepharophimosis-intellectual disability syndrome
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 58 cases | Worldwide | Case(s) | Validated | 22077973[PMID]_21567902[PMID]_18798845[PMID]_16700052[PMID]_15176598[PMID]_15127758[PMID]_12868473[PMID]_10955481[PMID]_10631927[PMID]_9605288[PMID]_9546834[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293642
- This record as JSON: /data/d/293642.json