CDAGS Syndrome

Alternative Names

  • Craniosynostosis, Anal Anomalies, and Porokeratosis
  • CAP Syndrome
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

603116

Mode of Inheritance

Autosomal recessive

Description

CDAGS is an extremely rare condition characterized by craniosynostosis and clavicular hypoplasia, delayed closure of the fontanel, anal anomalies, genitourinary malformations and skin eruption .

Epidemiology in the Arab World

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Other Reports

Lebanon

Chouery et al (2013) described a Lebanese family with two sisters affected with CDAGS. Both patients presented with total alopecia, bilateral coronal synostosis, facial lesions, and a characteristic facies. The younger sibling had, in addition, a rectoperineal fistula. 

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