Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review

Eur J Med Genet. 2013 Dec;56(12):674-7. doi: 10.1016/j.ejmg.2013.09.012. Epub 2013 Oct 4.

Abstract

CDAGS syndrome is an autosomal recessive syndrome characterized by craniosynostosis, large open fontanelles, hearing loss, anal anomalies, genitourinary malformations and porokeratosis. To our knowledge, only four families from different geographic regions and ethnic backgrounds have been reported until now and no molecular defect has been identified. Here we report two sisters presenting with craniosynostosis, microcephaly, short downslanting palpebral fissures, sparse hair, eyelashes, and eyebrows and porokeratosis that appeared at the age of one month. The youngest sister had an imperforate anus with rectoperineal fistula. Array-CGH did not reveal any pathological CNV. Molecular analysis of the c16orf57, RECQL4 and MCM5 genes was normal.

Keywords: Abnormal placement of anus; CDAGS; Craniosynostosis; Porokeratosis.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Anal Canal / abnormalities*
  • Cell Cycle Proteins / genetics
  • Child, Preschool
  • Craniosynostoses / diagnosis
  • Craniosynostoses / genetics*
  • Digestive System Abnormalities / diagnosis
  • Digestive System Abnormalities / genetics*
  • Female
  • Humans
  • Infant
  • Porokeratosis / diagnosis
  • Porokeratosis / genetics*
  • RecQ Helicases / genetics
  • Siblings

Substances

  • Cell Cycle Proteins
  • MCM5 protein, human
  • RECQL4 protein, human
  • RecQ Helicases

Supplementary concepts

  • Craniosynostosis, anal anomalies, and porokeratosis