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Craniosynostosis-anal anomalies-porokeratosis syndrome
Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).
ORPHA:85199Classification level: Disorder
It has been described in seven patients from four unrelated families.
Cranial abnormalities include a coronal synostosis with wide-open anterior and posterior fontanels and large parietal foramina. In some patients the skin eruption has been classified as porokeratosis (a disorder of keratinization). Sensorineural hearing loss and mild to severe developmental delay are common.
The condition is transmitted as an autosomal recessive trait.
A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010)