Blepharophimosis-intellectual disability syndrome, MKB type
Synonyms: BMRS, MKB type · BMRS, Maat-Kievit-Brunner type · Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type · X-linked Ohdo syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, X-linked, syndromic, intellectual disability disorder affecting only boys and characterized by global development delay with little or no speech, urogenital abnormalities, including scrotal hypoplasia, micro penis, and cryptorchidism, autistic behavior, and facial dysmorphism. Most typical facial features are ptosis, blepharophimosis, a bulbous nasal tip, a long philtrum, and maxillar hypoplasia with full cheeks. Other variable features include microcephaly, hearing loss, dental anomalies, and hyperextensible joints.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Blepharophimosis-intellectual disability syndrome, MKB type | BMRS, MKB type · BMRS, Maat-Kievit-Brunner type · Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type · X-linked Ohdo syndrome |
| fr | Syndrome de blépharophimosis-déficience intellectuelle type MKB | BMRS type MKB · BMRS type Maat-Kievit-Brunner · Syndrome d'Ohdo lié à l'X · Syndrome de blépharophimosis-déficience intellectuelle type Maat-Kievit-Brunner |
| de | Blepharophimose-Intelligenzminderung-Syndrom Typ MKB | BMRS vom Typ Maat-Kievit-Brunner · BMRS, MKB-Typ · Blepharophimose-Intelligenzminderung-Syndrom, Typ Maat-Kievit-Brunner · Ohdo-Syndrom, X-chromosomales |
| es | Síndrome de blefarofimosis-discapacidad intelectual tipo MKB | BMRS tipo MKB · BMRS tipo Maat-Kievit-Brunner · Síndrome de Ohdo ligado al cromosoma X · Síndrome de blefarofimosis-discapacidad intelectual tipo Maat-Kievit-Brunner |
| it | Sindrome blefarofimosi-disabilità intellettiva, tipo MKB | BMRS, tipo MKB · BMRS, tipo Maat-Kievit-Brunner · Sindrome blefarofimosi-disabilità cognitiva, tipo Maat-Kievit-Brunner · Sindrome di Ohdo legata all'X |
| nl | Blefarofimose - intellectuele achterstand-syndroom, MKB-type | BMRS, MKB-type · BMRS, Maat-Kievit-Brunner-type · Blefarofimose - intellectuele achterstand-syndroom, Maat-Kievit-Brunner-type · X-gebonden Ohdosyndroom |
| pt | Síndrome de blefarofimose-perturbação do desenvolvimento intelectual, tipo MKB | BMRS, tipo MKB · BMRS, tipo Maat-Kievit-Brunner · Síndrome Ohdo ligada ao X · Síndrome de blefarofimose-perturbação do desenvolvimento intelectual, tipo Maat-Kievit-Brunner |
| pl | Zespół zwężenia szpar powiekowych i niepełnosprawności intelektualnej, typ MKB | BMRS, typ Maata, Kievita i Brunnera · BMRS, typu MKB · Zespół Ohdo sprzężony z chromosomem X · Zespół zwężenia szpar powiekowych i niepełnosprawności intelektualnej, typ Maata, Kievita i Brunnera |
| cs | Syndrom zahrnující blefarofimózu a mentální retardaci, typ MKB | BMRS, typ MKB · BMRS, typ Maat-Kievit-Brunner · Syndrom zahrnující blefarofimózu a omezení intelektu, typ Maat-Kievit-Brunner · X-vázaný Ohdoův syndrom |
| uk | Синдром блефарофімозу-інтелектуальної недостатності, тип MKB | Синдром блефарофімозу - інтелектуальної недостатності, тип Маат-Кієвіт-Бруннер · BMRS типу Маат-Київіт-Бруннер · BMRS, тип MKB · Х-зчеплений синдром Одо |
| zh | 睑裂-智力障碍综合征MKB型 | 小睑裂-智力迟滞综合征 |
| tr | Blefarofimoz-zihinsel yetersizlik sendromu, MKB tipi | BMRS, MKB tipi · X'e bağlı Ohdo sendromu · BMRS, Maat-Kievit-Brunner türü · Blefarofimoz-zihinsel yetersizlik sendromu, Maat-Kievit-Brunner tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300895 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010477 | E | validated | |
| UMLS | C3698541 | 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 |
|---|---|---|---|---|---|---|---|---|
| MED12 | Disease-causing germline mutation(s) in | Assessed | HGNC:11957 | ENSG00000184634 | 300188 | Xq13.1 | mediator complex subunit 12 | 23395478[PMID] |
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
8 annotations · validated 2019-10-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000581 | Blepharophimosis | |
| HP:0000414 | Bulbous nose | |
| HP:0000280 | Coarse facial features | |
| HP:0008947 | Floppy infant | |
| HP:0001249 | Intellectual disability | |
| HP:0000448 | Prominent nose | |
| HP:0009928 | Thick nasal alae | |
| HP:0000325 | Triangular face | |
Annotation source: 16700052[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/293707
- This record as JSON: /data/d/293707.json