BRESEK syndrome
Synonyms: BRESHECK syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Childhood
- Status
- active
A rare genetic, multiple congenital malformation syndrome characterized by brain anomalies (thinning of the corpus callosum with dilatation of ventricles), intellectual disability, ectodermal dysplasia, skeletal deformities (vertebral anomalies, scoliosis, polydactyly), ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and kidney dysplasia/hypoplasia. In the case that clinical manifestation is also associated to Hirschsprung disease and cleft palate or cryptorchidism, it is named as BRESHECK syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | BRESEK syndrome | BRESHECK syndrome |
| fr | Syndrome BRESEK | Syndrome BRESHECK |
| de | BRESEK-Syndrom | BRESHECK-Syndrom |
| es | Síndrome BRESEK | Síndrome BRESHECK |
| it | Sindrome BRESEK | Sindrome BRESEK · Sindrome BRESHECK |
| nl | BRESEK-syndroom | BRESHECK-syndroom |
| pt | Síndrome BRESEK | Síndrome BRESHECK |
| pl | Zespół BRESEK | Zespół BRESHECK |
| cs | BRESEK syndrom | BRESHECK syndrom |
| uk | Синдром BRESEK | Синдром BRESHECK |
| zh | BRESEK综合征 | BRESHECK综合征 |
| tr | BRESEK sendromu | BRESHECK sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 308205 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0019414 | E | validated | |
| MeSH | C564519 | E | validated | |
| UMLS | C3502469 | 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: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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MBTPS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:15455 | ENSG00000012174 | 300294 | Xp22.12 | membrane bound transcription factor peptidase, site 2 | 22105905[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 24090718[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.
HPO phenotypes
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012443 | Abnormality of brain morphology | |
| HP:0001596 | Alopecia | |
| HP:0000028 | Cryptorchidism | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0000238 | Hydrocephalus | |
| HP:0005343 | Hypoplasia of the bladder | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0000411 | Protruding ear | |
| HP:0000089 | Renal hypoplasia | |
| Frequent (79-30%) | ||
| HP:0002251 | Aganglionic megacolon | |
| HP:0000175 | Cleft palate | |
| HP:0000444 | Convex nasal ridge | |
| HP:0008734 | Decreased testicular size | |
| HP:0000365 | Hearing impairment | |
| HP:0002937 | Hemivertebrae | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000612 | Iris coloboma | |
| HP:0000568 | Microphthalmia | |
| HP:0003811 | Neonatal death | |
| HP:0001357 | Plagiocephaly | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0000110 | Renal dysplasia | |
| HP:0002650 | Scoliosis | |
| HP:0000076 | Vesicoureteral reflux | |
| Occasional (29-5%) | ||
| HP:0008064 | Ichthyosis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 9021007[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85284
- This record as JSON: /data/d/85284.json