Baraitser-winter syndrome 1

Preferred Label : Baraitser-winter syndrome 1;

Symbol : BRWS1;

CISMeF acronym : BRWS1; COFLS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation with epilepsy and characteristic facies; COFLS; Iris coloboma with ptosis, hypertelorism, and mental retardation; Pachygyria, mental retardation, epilepsy, and characteristic facies; Cerebrofrontofacial syndrome; Cerebrooculofacial lymphatic syndrome; Fryns-aftimos syndrome; Chromosome 7p22 deletion syndrome;

Description : Baraitser-Winter syndrome is a rare but well-defined developmental disorder recognized by the combination of congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata, and a brain malformation consisting of anterior-predominant lissencephaly. Other typical features include postnatal short stature and microcephaly, intellectual disability, seizures, and hearing loss (summary by Riviere et al., 2012). - Genetic Heterogeneity of Baraitser-Winter Syndrome Baraitser-Winter syndrome-2 (BRWS2; 614583) is caused by heterozygous mutation in the ACTG1 gene (102560) on chromosome 17q25.3.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the beta actin gene (ACTB, 102630.0002);

Laboratory abnormalities : Chromosome inversion - inv2(p12q14) in 2 patients;

Prefixed ID : #243310;

Details

Origin ID

243310;

UMLS CUI

C1855722;

Automatic exact mappings (from CISMeF team)
- ACTB wt Allele [NCIt concept]
- Fryns-Aftimos syndrome [MeSH concept]
- Fryns-Aftimos syndrome [MeSH Supplementary Concept]
- cerebrofrontofacial syndrome [MeSH concept]
- cerebrofrontofacial syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Baraitser Winter syndrome 1 [Disease (Nov.)]
- Baraitser-Winter cerebrofrontofacial syndrome [ORDO Disease]
- Iris coloboma with ptosis, hypertelorism, and mental retardation (disorder) [SNOMED CT concept]
- iris coloboma with ptosis, hypertelorism, and mental retardation [MeSH concept]
- iris coloboma with ptosis, hypertelorism, and mental retardation [MeSH Supplementary Concept]
DO Cross reference
- Baraitser-Winter syndrome [DO Concept]
Genes related to phenotype
- Actin, beta [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Anteverted nares [HPO term]
- Aortic valve stenosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Chorioretinal coloboma [HPO term]
- Cleft upper lip [HPO term]
- Cryptorchidism [HPO term]
- Duplication of phalanx of hallux [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Highly arched eyebrow [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Iris coloboma [HPO term]
- Lissencephaly [HPO term]
- Long palpebral fissure [HPO term]
- Long philtrum [HPO term]
- Low posterior hairline [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Microphthalmia [HPO term]
- Midface retrusion [HPO term]
- Oral cleft [HPO term]
- Overfolded helix [HPO term]
- Pachygyria [HPO term]
- Patent ductus arteriosus [HPO term]
- Pointed chin [HPO term]
- Postnatal growth retardation [HPO term]
- Ptosis [HPO term]
- Retrognathia [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short stature [HPO term]
- Thin upper lip vermilion [HPO term]
- Trigonocephaly [HPO term]
- Ventriculomegaly [HPO term]
- Wide mouth [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Baraitser-Winter cerebrofrontofacial syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Baraitser Winter syndrome 1 [Disease (Nov.)]
- Baraitser-Winter cerebrofrontofacial syndrome [ORDO Disease]
- iris coloboma with ptosis, hypertelorism, and mental retardation [MeSH Supplementary Concept]
- iris coloboma with ptosis, hypertelorism, and mental retardation [MeSH concept]
Validated automatic mappings to NTBT
- Baraitser Winter syndrome [Disease (Nov.)]
- Baraitser-Winter syndrome [DO Concept]

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