Cdags Syndrome

Cdags Syndrome, also known as craniosynostosis-anal anomalies-porokeratosis syndrome, is related to microcephaly-capillary malformation syndrome and camptodactyly-arthropathy-coxa vara-pericarditis syndrome. An important gene associated with Cdags Syndrome is RNU12 (RNA, U12 Small Nuclear). Affiliated tissues include skin and bone, and related phenotypes are frontal bossing and delayed skeletal maturation