ORPHA:2728
Blepharophimosis-intellectual disability syndrome, Ohdo type
Synonyms: BMRS, Ohdo type · Blepharophimosis syndrome, Ohdo type · Ohdo syndrome · Ohdo-Madokoro-Sonoda syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Blepharophimosis-intellectual disability syndrome, Ohdo type | BMRS, Ohdo type · Blepharophimosis syndrome, Ohdo type · Ohdo syndrome · Ohdo-Madokoro-Sonoda syndrome |
| fr | Syndrome de blépharophimosis-déficience intellectuelle type Ohdo | BMRS type Ohdo · Blépharophimosis type Ohdo · Syndrome d'Ohdo |
| de | Blepharophimose-Intelligenzminderung-Syndrom Typ Ohdo | BMRS Typ Ohdo · Blepharophimose-Syndrom Typ Ohdo · Ohdo-Blepharophimose-Syndrom · Ohdo-Madokoro-Sonoda-Syndrom · Ohdo-Syndrom |
| es | Síndrome de blefarofimosis-discapacidad intelectual tipo Ohdo | Síndrome de Ohdo · Síndrome de Ohdo-Madokoro-Sonoda · Síndrome de blefarofimosis tipo Ohdo |
| it | Sindrome blefarofimosi-disabilità intellettiva, tipo Ohdo | BMRS, tipo Ohdo · Sindrome da blefarofimosi, tipo Ohdo · Sindrome di Ohdo · Sindrome di Ohdo-Madokoro-Sonoda |
| nl | Blefarofimose - intellectuele achterstand-syndroom, Ohdo-type | BMRS, Ohdo-type · Blefarofimose-syndroom, Ohdo-type · Syndroom van Ohdo · Syndroom van Ohdo-Madokoro-Sonoda |
| pt | Síndrome de blefarofimose-perturbação do desenvolvimento intelectual, tipo Ohdo | BMRS, tipo Ohdo · Síndrome Ohdo · Síndrome Ohdo-Madokoro-Sonoda · Síndrome de blefarofimose, tipo Ohdo |
| pl | Zespół zwężenia szpary powiekowej i niepełnosprawności intelektualnej typu Ohdo | BMRS, typu Ohdo · Zespół Ohdo · Zespół Ohdo, Madokoro i Sonoda · Zespół zwężenia szpary powiekowej, typ Ohdo · Zespół zwężenia szpar powiekowych - niepełnosprawności intelektualnej typu Ohdo |
| cs | Syndrom zahrnující blefarofimózu a mentální retardaci, Ohdův typ | BMRS, Ohdův typ · Syndrom blefarofimózy, Ohdův typ · Ohdův syndrom · Ohdův-Madokorův-Sonodaův syndrom · Ohdo-Madokoro-Sonodaův syndrom |
| uk | Синдром блефарофімозу-інтелектуальної недостатності, тип Одо | Синдром блефарофімозу, тип Одо · BMRS типу Одо · Синдром Одо · Синдром Одо-Мадокоро-Сонода |
| zh | 睑裂狭小-智力障碍综合征，Ohdo型 | 睑裂狭小综合征，Ohdo型 |
| tr | Blefarofimoz-zihinsel yetersizlik sendromu, Ohdo tipi | Ohdo sendromu · BMRS, Ohdo tipi · Ohdo-Madokoro-Sonoda sendromu · Blefarofimoz sendromu, Ohdo tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 249620 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0009583 | E | validated | |
| MeSH | C536232 | E | validated | |
| UMLS | C0796094 | E | validated | |
| GARD | 3348 | 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 (1):
- ORPHA:293642Blepharophimosis-intellectual disability syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders
No children.
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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 | 30 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
26 annotations · validated 2017-09-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001018 | Abnormal palmar dermatoglyphics | |
| HP:0000356 | Abnormality of the outer ear | |
| HP:0000646 | Amblyopia | Diagnostic criterion |
| HP:0000581 | Blepharophimosis | Diagnostic criterion |
| HP:0000028 | Cryptorchidism | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000365 | Hearing impairment | |
| HP:0030148 | Heart murmur | |
| HP:0000685 | Hypoplasia of teeth | |
| HP:0001256 | Intellectual disability, mild | Diagnostic criterion |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0000691 | Microdontia | |
| HP:0000568 | Microphthalmia | |
| HP:0008551 | Microtia | |
| HP:0001270 | Motor delay | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0000093 | Proteinuria | |
| HP:0000508 | Ptosis | |
| HP:0000403 | Recurrent otitis media | |
| HP:0000046 | Small scrotum | |
| HP:0000687 | Widely spaced teeth | |
| Frequent (79-30%) | ||
| HP:0001631 | Atrial septal defect | Diagnostic criterion |
| HP:0000175 | Cleft palate | |
| HP:0012619 | Multiple bladder diverticula | |
| HP:0012768 | Neonatal asphyxia | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 16700052[PMID]_3723552[PMID]_8279489[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2728
- This record as JSON: /data/d/2728.json