Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare developmental defect during embryogenesis characterized by the presence of major features of both blepharophimosis-intellectual disability syndrome and genitopatellar syndrome. These major features may include blepharophimosis, ptosis, hypomimia, skeletal features like patellar a/hypoplasia and renal and/or genital malformations.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome | |
| fr | Syndrome de chevauchement des syndromes blépharophimosis-déficience intellectuelle/génito-patellaire | |
| de | Blepharophimose-Intelligenzminderung-Syndrom/genitopatellares Überlappungssyndrom | |
| es | Síndrome de blefarofimosis-discapacidad intelectual tipo SBBYS con solapamiento con síndrome genitopatelar | |
| it | Sindrome da blefarofimosi e disabilità intellettiva, sindrome SBBYS sovrapposta alla sindrome genitopatellare | |
| nl | Overlapsyndroom van blefarofimose - intellectuele achterstand-syndroom, SBBYS-type/genitopatellair syndroom | |
| pt | Síndrome de blefarofimose-perturbação do desenvolvimento intelectual/síndrome de sobreposição genitopatelar | |
| pl | Zespół blefarofimozy i niepełnosprawności intelektualnej, typ SBBYS/zespół płciowo-rzepkowy | |
| cs | Syndrom zahrnující blefarofimózu a mentální retardaci/genitopatelární překryvný syndrom | |
| uk | Синдром блефарофімозу-інтелектуальної недостатності/генітопателлярного Overlap-синдрому | |
| zh | Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome | |
| tr | Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0035707 | E | validated | |
| UMLS | C5681588 | 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 (2):
- ORPHA:597749KAT6B-related multiple congenital anomalies syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare urogenital diseases; rare bone diseases - ORPHA:177107Syndromic hypothyroidism
rare genetic diseases; rare endocrine diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 122 cases | Worldwide | Case(s) | Validated | 32424177[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | 32424177[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/597746
- This record as JSON: /data/d/597746.json