Blepharophimosis-intellectual disability syndrome, Verloes type
Synonyms: BMRS type V · BMRS, Verloes type · Blepharophimosis-intellectual disability syndrome type V
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Blepharophimosis-intellectual disability syndrome, Verloes type | BMRS type V · BMRS, Verloes type · Blepharophimosis-intellectual disability syndrome type V |
| fr | Syndrome de blépharophimosis-déficience intellectuelle type Verloes | BMRS type V · BMRS type Verloes |
| de | Blepharophimose- Intelligenzminderung-Syndrom, Typ Verloes | BMRS Typ V · BMRS Typ Verloes · Blepharophimose- Intelligenzminderung-Syndrom Typ V |
| es | Síndrome de blefarofimosis-discapacidad intelectual tipo Verloes | BMRS tipo V · BMRS tipo Verloes · Síndrome de blefarofimosis-discapacidad intelectual tipo V |
| it | Sindrome blefarofimosi-disabilità intellettiva tipo Verloes | BMRS, tipo V · BMRS, tipo Verloes · Sindrome blefarofimosi-deficit cognitivo, tipo V |
| nl | Blefarofimose - intellectuele achterstand-syndroom, Verloes-type | BMRS type V · BMRS, Verloes-type · Blefarofimose - intellectuele achterstand-syndroom type V |
| pt | Síndrome de blefarofimose-perturbação do desenvolvimento intelectual, tipo Verloes | BMRS tipo V · BMRS, tipo Verloes · Síndrome de blefarofimose-perturbação do desenvolvimento intelectual tipo V |
| pl | Zespół zwężenie szpar powiekowych-niepełnosprawność intelektualna, typ Verloesa | BMRS typu V · BMRS, typ Verloesa · Zespół zwężenie szpar powiekowych-niepełnosprawność intelektualna typu V |
| cs | Syndrom zahrnující blefarofimózu a mentální retardaci, Verloesův typ | BMRS, typ V · BMRS, typ Verloes · Syndrom zahrnující blefarofimózu a omezení intelektu, typ V |
| uk | Синдром блефарофімозу-інтелектуальної недостатності, тип Верлоеса | Синдром блефарофімозу - інтелектуальної недостатності, тип V · BMRS типу V · BMRS типу Verloes |
| zh | 睑裂-智力障碍综合征Verloes型 | 睑裂-智力障碍综合征V型 |
| tr | Blefarofimoz-zihinsel yetersizlik sendromu, Verloes tipi | BMRS tip V · BMRS, Verloes türü · Blefarofimozis-zihinsel yetersizlik sendromu tip V |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 604314 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0011432 | E | validated | |
| UMLS | C4755262 | 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
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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.
HPO phenotypes
32 annotations · validated 2019-10-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0100587 | Abnormality of the preputium | |
| HP:0001181 | Adducted thumb | |
| HP:0000581 | Blepharophimosis | |
| HP:0008947 | Floppy infant | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0011343 | Moderate global developmental delay | |
| HP:0011451 | Primary microcephaly | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0002339 | Abnormal caudate nucleus morphology | |
| HP:0010761 | Broad columella | |
| HP:0000414 | Bulbous nose | |
| HP:0002190 | Choroid plexus cyst | |
| HP:0000185 | Cleft soft palate | |
| HP:0006191 | Deep palmar crease | |
| HP:0000437 | Depressed nasal tip | |
| HP:0000293 | Full cheeks | |
| HP:0000807 | Glandular hypospadias | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0001562 | Oligohydramnios | |
| HP:0006970 | Periventricular leukomalacia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000395 | Prominent antihelix | |
| HP:0005274 | Prominent nasal tip | |
| HP:0000448 | Prominent nose | |
| HP:0000278 | Retrognathia | |
| HP:0000311 | Round face | |
| HP:0000322 | Short philtrum | |
| HP:0000319 | Smooth philtrum | |
| HP:0009928 | Thick nasal alae | |
| HP:0000391 | Thickened helices | |
| HP:0011251 | Underdeveloped antitragus | |
Annotation source: 16700052[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293725
- This record as JSON: /data/d/293725.json