Baraitser-Winter Syndrome 1

Alternative Names

  • BRWS1
  • Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation
  • Fryns-Aftimos Syndrome
  • Pachygyria, Mental Retardation, Epilepsy, And Characteristic Facies
  • Cerebrooculofacial Lymphatic Syndrome
  • COFLS
  • Mental Retardation with Epilepsy and Characteristic Facies
  • Cerebrofrontofacial Syndrome
  • Chromosome 7p22 Deletion Syndrome

Associated Genes

Actin, Beta
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

243310

Mode of Inheritance

Autosomal recessive

Gene Map Locus

7p22.1

Description

BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies. [From OMIM]

Molecular Genetics

Pericentric inversion of chromosome 2 - inv(2)(p12-q14) has been described in at least two of the patients diagnosed with this condition. This chromosomal locus contains the Paired Box 8 (PAX8) gene, which codes for a transcription factor involved in the formation of thyroxine-producing follicular cells during embryogenesis.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
243310.1United Arab EmiratesFemaleNoYes Global developmental delay; Abnormal fac...NM_001101.3:c.773C>THeterozygousSaleh et al. 2021 de novo mutation
243310.2ArabFemaleNo Hip dysplasia; Metopic synostosis; Micro...NM_001101.3:c.217C>GHeterozygousAutosomal, DominantMaddirevula et al. 2018 de novo mutation

Other Reports

Oman

Ganesh et al. (2005) reported a case of Baraitser-Winter syndrome in a two-year-old girl with visual impairment and psychomotor delay (nine-ten months level). She also had typical dysmorphic features of the syndrome, including trigonocephaly, hypertelorism, bilateral ptosis, prominent epicanthial folds, broad nasal bridge with short nose and upturned tip, and thin upper lip along with high arched palate, mild micrognathia, low posterior hair line, prominent cheeks, and long hypoplastic philtrum. Her parents were non-consanguineous and phenotypically normal. She had no family history of such a condition. Ocular examination revealed absence of fixation or following of objects with the left eye along with left esotropia, and microcornea (9 mm and 9.5 mm of right eye; 7mm and 7 mm of left eye, horizontally and vertically, respectively). Bilateral coloboma of the iris at the inferonasal region was present, with remnants of the tunica vasculosa lentis seen in both eyes, along with normal lens and intraocular pressure. Fundal examination revealed choroidal and optic nerve colobomas which were confirmed by CT scan and MRI of the orbits. Ocular axial lengths using A-scan ultrasonography were 16mm (right eye) and 13 mm (left eye). MRI of the brain revealed widespread bilateral pachygyria, band heterotropia, hypoplasia and paucity of the white matter which was necrotic in the parietal and occipital region, and mild dilatation of the occipital horns of the lateral ventricles. Chromosomal analysis by G-banding was normal. The diagnosis was confirmed by comparing her findings with the London Dysmorphology Database. Ganesh et al. (2005) emphasized the importance of baseline ocular examination and follow-up in such patients as well as extensive pediatric evaluation of patients with iris or choroidal coloboma and that the diagnosis of Baraitser-Winter syndrome should be thought of in cases of typical dysmorphism and brain malformations.

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