ORPHA:2995
Baraitser-Winter cerebrofrontofacial syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Fryns-Aftimos syndrome (FA; pachygyria, epilepsy, intellectual disability, dysmorphism) corresponds to the appearance of Baraitser-Winter cerebrofrontofacial syndrome (BWS) in elder patients.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Baraitser-Winter cerebrofrontofacial syndrome | |
| fr | Syndrome de Baraitser-Winter cérébrofrontofacial | |
| de | Baraitser-Winter zerebro-fronto-faziales Syndrom | BWCFF · Baraitser-Winter-Syndrom |
| es | Síndrome cerebrofrontofacial de Baraitser-Winter | |
| it | Sindrome di Baraitser-Winter | Sindrome cerebro-fronto-facciale, tipo 3 · Sindrome coloboma irideo-ptosi-deficit cognitivo |
| nl | Cerebrofrontofaciaal syndroom van Baraitser-Winter | |
| pt | Síndrome cerebro-fronto-facial Baraitser-Winter | |
| pl | Zespół mózgowo-czołowo-twarzowy Baraitsera i Wintera | Rozszczep tęczówki - ptoza - niepełnosprawność intelektualna · Zespół mózgowo-czołowo-twarzowy typu 3 |
| cs | Baraitserův-Winterův syndrom | Cerebrofrontofaciální syndrom, typ 3 · Syndrom zahrnující kolobom duhovky, ptózu a mentální retardaci · Baraitser-Winterův syndrom |
| uk | Цереброфронтофаціальний синдром Барайзера-Вінтера | |
| zh | Baraitser-Winter脑额面部综合征 | |
| tr | Baraitser-Winter serebrofrontofasiyal sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 243310 | BTNT | validated | |
| OMIM | 614583 | BTNT | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0017579 | E | validated | |
| UMLS | C5680770 | E | validated | |
| GARD | 5279 | 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 (2):
- ORPHA:102010Other syndrome with lissencephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - ORPHA:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:2649Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome moved to · inactive
- ORPHA:94084Cerebro-oculo-facial-lymphatic syndrome moved to · inactive
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ACTB | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:132 | ENSG00000075624 | 102630 | 7p22.1 | actin beta | 22366783[PMID] |
| ACTG1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:144 | ENSG00000184009 | 102560 | 17q25.3 | actin gamma 1 | 22366783[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 60 cases | Worldwide | Case(s) | Validated | 27625340[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27625340[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.
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HPO phenotypes
62 annotations · validated 2017-07-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002381 | Aphasia | |
| HP:0000280 | Coarse facial features | |
| HP:0000437 | Depressed nasal tip | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0010529 | Echolalia | |
| HP:0000286 | Epicanthus | |
| HP:0012905 | Euryblepharon | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0000293 | Full cheeks | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0000612 | Iris coloboma | |
| HP:0001339 | Lissencephaly | |
| HP:0000637 | Long palpebral fissure | |
| HP:0000343 | Long philtrum | |
| HP:0000347 | Micrognathia | |
| HP:0002300 | Mutism | |
| HP:0040188 | Osteochondrosis | |
| HP:0001302 | Pachygyria | |
| HP:0001302 | Pachygyria | |
| HP:0000307 | Pointed chin | |
| HP:0002126 | Polymicrogyria | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0000508 | Ptosis | |
| HP:0000278 | Retrognathia | |
| HP:0001250 | Seizure | |
| HP:0002000 | Short columella | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0001328 | Specific learning disability | |
| HP:0000506 | Telecanthus | |
| HP:0000233 | Thin vermilion border | |
| HP:0000154 | Wide mouth | |
| HP:0000431 | Wide nasal bridge | |
| HP:0000445 | Wide nose | |
| Frequent (79-30%) | ||
| HP:0010935 | Abnormality of the upper urinary tract | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0100308 | Cerebral cortical hemiatrophy | |
| HP:0000270 | Delayed cranial suture closure | |
| HP:0001100 | Heterochromia iridis | |
| HP:0000126 | Hydronephrosis | |
| HP:0000072 | Hydroureter | |
| HP:0001387 | Joint stiffness | |
| HP:0000239 | Large fontanelles | |
| HP:0003189 | Long nose | |
| HP:0002162 | Low posterior hairline | |
| HP:0000252 | Microcephaly | |
| HP:0000448 | Prominent nose | |
| HP:0030502 | Retinoschisis | |
| HP:0000470 | Short neck | |
| HP:0012157 | Subcortical cerebral atrophy | |
| HP:0000243 | Trigonocephaly | |
| Occasional (29-5%) | ||
| HP:0009942 | Duplication of thumb phalanx | |
| HP:0000482 | Microcornea | |
| HP:0000588 | Optic disc coloboma | |
| HP:0100540 | Palpebral edema | |
| HP:0002650 | Scoliosis | |
| HP:0002326 | Transient ischemic attack | |
| HP:0000465 | Webbed neck | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2995
- This record as JSON: /data/d/2995.json