CDAGS syndrome
Autosomal recessive condition that brings together apparently opposing pathophysiologic and developmental processes, including accelerated suture closure and delayed ossification.
Synopsis
craniosynostosis
delayed closure of the fontanel
cranial defects
clavicular hypoplasia
anal malformations
genitourinary malformations
skin eruption
References
Mendoza-Londono R, Lammer E, Watson R, Harper J, Hatamochi A, Hatamochi-Hayashi S, Napierala D, Hermanns P, Collins S, Roa BB, Hedge MR, Wakui K, Nguyen D, Stockton DW, Lee B. Characterization of a New Syndrome That Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS. Am J Hum Genet. 2005 Jul;77(1):161-8. PMID: 15924278