Cdags syndrome
DefinitionThis section has been translated automatically.
Acronym for "craniosynostosis and clavicular hypoplasia, delayed closure of the fontanel, cranial defects and deafness, anal anomalies, genitourinary malformations and skin eruptions", a congenital systemic disease whose symptoms manifest themselves in the first months of life, and which has been defined as porokeratosis in some patients.
Occurrence/EpidemiologyThis section has been translated automatically.
Very rare clinical picture
EtiopathogenesisThis section has been translated automatically.
The genetic defect is located in the chromosome region 22q12-q13.
ManifestationThis section has been translated automatically.
Infancy
Clinical featuresThis section has been translated automatically.
Clinically dermatologically, therapy-resistant acral accentuated, eczematous changes may occur which are reminiscent of " Acrodermatitis enteropathica".
TherapyThis section has been translated automatically.
Symptomatic, anti-eczematous.
LiteratureThis section has been translated automatically.
- Kerstan A et al (2011) Unusual dermatitis in CDAGS syndrome: clinical differential diagnosis of acrodermatitis enteropathica and dysmetabolica. Abstract CD 46th DDG meeting FV02/08