CDAGS syndrome
Rare genetic syndrome with craniosynostosis, anal anomalies, and skin eruption.
CDAGS syndrome, also known as CAP syndrome, is a very rare genetic disorder characterized by craniosynostosis, delayed closure of the fontanelles, deafness, anal anomalies, genital malformations, and skin eruption. It is caused by biallelic variants in the RECQL4 gene, which disrupts DNA repair and replication. Fewer than 10 cases are known worldwide, making it an extremely rare condition with significant implications for understanding genetic syndromes.
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Lore & Background
The first known patients were a Japanese brother and sister reported in 1983, where it was already clear the affliction was hereditary. In 1990 an Irish patient was reported, but the link with the Japanese cases was not made at that time. When a similarly affected brother was born in 1998, it became clear they were dealing with a hereditary syndrome, which was initially called CAP-syndrome (craniosynostosis, anal anomalies and porokeratosis). In 2005, Dr. Mendoza-Londono discovered three new American cases in two families and connected them to the Irish and Japanese cases, updating the name to CDAGS syndrome.
Reader's Guide
CDAGS syndrome is significant as a model for understanding spliceosomal disorders, as it is caused by defects in the minor spliceosome due to variants in the RNU12 gene. This disrupts alternative splicing in 120 genes and dysregulates gene expression, particularly affecting skin morphogenesis and forebrain development. The syndrome's rarity—only 14 known cases—highlights the challenges in diagnosing and managing ultra-rare conditions. Clinical diagnosis relies on the typical skin eruption pattern combined with bicoronal craniosynostosis and anal atresia, with genetic confirmation via RNU12 sequencing. Treatment is symptomatic: surgical correction for cranial, genitourinary, and anal anomalies; hearing aids for deafness; and emollients, antibiotics, retinoids, corticosteroids, or pulsed dye laser for skin lesions. Mental and motor development must be monitored for early intervention. The syndrome's impact on quality of life is substantial, especially due to the difficult-to-manage skin eruption.
Did You Know?
- Fewer than 10 cases of CDAGS syndrome are known worldwide, in about 6 families.
- The syndrome was originally called CAP syndrome, for craniosynostosis, anal anomalies, and porokeratosis.
- All patients have some form of alopecia; newborns typically have alopecia totalis.
- The first Mexican case, reported in 2017, is the only case where overlapping toes have been reported.
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