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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 85199
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).
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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