By Gary M. White, MD
CDAGS syndrome is the constellation of craniosynostosis and clavicular hypoplasia; delayed fontanel closure, cranial defects (such as parietal foramina), deafness; imperforate anus or anterior anal placement; genitourinary abnormalities (such as hypospadias and urethrorectal fistula); and skin eruption, especially porokeratosis-like lesions.
- Mental retardation, scant hair, and Staphylococcus aureus–positive cultures from skin lesions have been reported.
- It used to be called CAP syndrome (craniosynostosis, anal anomalies, and porokeratosis).
- The responsible gene remains unknown, but multipoint linkage analysis targets the suspected gene to chromosome 22q12-q13.
Circinate, erythematous, erosive plaques on the skin occur. They may have a firm, raised, thread-like border reminiscent of porokeratosis.
A 2-year-old developmentally delayed girl presented with a skin eruption that had delayed corrective surgery for craniosynostosis. She had been born with an imperforate anus. The skin lesions began shortly after birth, progressively worsened, and were variably pruritic and tender. [JAAD May 2013;Volume 68, Issue 5, Pages 881–884 ]
Homepage | FAQs | Use of Images | Contact Dr. White
It is not the intention of RegionalDerm.com to provide specific medical advice, diagnosis or treatment. RegionalDerm.com only intends to provide users with information regarding various medical conditions for educational purposes and will not provide specific medical advice. Information on RegionalDerm.com is not intended as a substitute for seeking medical treatment and you should always seek the advice of a qualified healthcare provider for diagnosis and for answers to your individual questions. Information contained on RegionalDerm.com should never cause you to disregard professional medical advice or delay seeking treatment. If you live in the United States and believe you are having a medical emergency call 911 immediately.