Cockayne Syndrome, Type A

Alternative Names

  • CSA
  • CKN1
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

216400

Mode of Inheritance

Autosomal recessive

Gene Map Locus

5q12.1

Description

Cockayne syndrome is a multisystem disorder characterized by premature aging, microcephaly, moderate to severe developmental and neurological delays, shortened lifespan, photosensitivity, progressive neurological dysfunction, and intellectual deficit. Patients with Cockayne syndrome type I have a normal prenatal growth with the onset of developmental abnormalities around one year of age.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
216400.1.1SomaliaUnknownYesYes Cutaneous photosensitivity; Progressive...NM_000082.3:c.551-1G>AHomozygousAutosomal, RecessiveKleppa et al. 2007
216400.1.2SomaliaUnknownYesYes Cutaneous photosensitivity; Progressiv...NM_000082.3:c.551-1G>AHomozygousAutosomal, RecessiveKleppa et al. 2007 Sibling of 216400.1....
216400.2LebanonUnknownYes Failure to thrive; Bird-like facies; I...NM_000082.3:c.966C>AHomozygousAutosomal, RecessiveLaugel et al, 2010
216400.3LebanonUnknownYes Failure to thrive; Bird-like facies; ...NM_000082.3:c.966C>AHomozygousAutosomal, RecessiveLaugel et al, 2010
216400.4.1SudanUnknownYesYes Failure to thrive; Bird-like facies; I...NM_000082.3:c.275+1G>AHomozygousAutosomal, RecessiveLaugel et al, 2010
216400.4.2SudanUnknownYesYes Failure to thrive; Bird-like facies; ...NM_000082.3:c.275+1G>AHomozygousAutosomal, RecessiveLaugel et al, 2010 Cousin of 216400.4.1
216400.5.1SudanUnknownYesYes Failure to thrive; Bird-like facies;...NM_000082.3:c.551-1G>AHomozygousAutosomal, RecessiveLaugel et al, 2010
216400.5.2SudanUnknownYesYes Failure to thrive; Bird-like facies...NM_000082.3:c.551-1G>AHomozygousAutosomal, RecessiveLaugel et al, 2010
216400.5.3SudanUnknownYesYes Failure to thrive; Bird-like facie...NM_000082.3:c.551-1G>AHomozygousAutosomal, RecessiveLaugel et al, 2010
216400.6LebanonUnknownYes Failure to thrive; Bird-like facies; I...NM_000082.3:c.173+1046A>GHomozygousAutosomal, RecessiveLaugel et al, 2010
216400.7LebanonMaleYesNo Hypotonia ; Short stature ; Microcepha...NM_000082.3:c.966C>AHomozygousAutosomal, RecessiveChebly et al, 2018 The patient had two ...
216400.8LebanonFemaleNoNo Growth delay ; Microcephaly ; Propto...NM_000082.3:c.843+1G>CHomozygousAutosomal, RecessiveChebly et al, 2018

Other Reports

Kuwait

Farag et al. (1993) screened 400 institutionalized mentally retarded (IQ less than 50) patients in Kuwait during a 4-year period (1986-1990). Three patients were found to be suffering from Cockayne syndrome type I.

Lebanon

Jabre et al. (1999) decribed three patients with Cockayne Syndrome. 

Palestine

Hamamy et al. (2005) described two Jordanian siblings with Cockayne syndrome, born to first cousin parents of Palestinian origin. 

United Arab Emirates

Saleh et al. (2021) described a female child with global development delay, dandy walker malformation, ASD, and multiple joint contractures. She was found to have homozygous deletion encompassing exons 10 and 11 of the ERCC8 gene. Parents were consanguineous and a cousin was affected withd evelopment delay and autism. 

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