Cockayne Syndrome B

Alternative Names

  • CSB
  • Cockayne Syndrome Type II
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

133540

Mode of Inheritance

Autosomal recessive

Gene Map Locus

10q11.23

Description

Cockayne syndrome is a rare multisystem disorder resulting in developmental and neurological delays and progressive neurological dysfunction. Patients often exhibit microcephaly, photosensitivity, premature aging and sensorineural hearing loss. The subtype of Cockayne syndrome B has a more severe prognosis, with patients succumbing to the disorder in the first decade of life. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
133540.1.1LebanonFemaleYes Short stature ; Cutaneous photosensiti...NM_000124.4:c.2008C>THomozygousAutosomal, RecessiveChebly et al, 2018
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