Verheij Syndrome

Alternative Names

  • VRJS
  • Chromosome 8q24.3 Deletion Syndrome
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

615583

Mode of Inheritance

Autosomal dominant

Gene Map Locus

8q24.3

Description

Verheij syndrome is characterized by growth retardation, delayed psychomotor development, dysmorphic facial features, and skeletal, mainly vertebral, abnormalities. Additional variable features may include coloboma, renal defects, and cardiac defects. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615583.1Saudi ArabiaMaleYesYes Cleft lip; Abnormality of the vertebral ...NM_078480.3:c.24+1G>CHomozygousAutosomal, RecessiveMonies et al. 2019 Father is similarly ...
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