Multiple benign circumferential skin creases on limbs
Synonyms: CCSF | Circumferential skin creases, Kunze type | Congenital circumferential skin folds | Kunze-Riehm syndrome
A rare genetic disease characterized by benign circumferential skin creases mainly on the limbs due to folding of excess skin. The creases often improve spontaneously in childhood. Patients also exhibit variable degrees of intellectual disability short stature cleft palate and facial dysmorphism (including epicanthal folds microphthalmia broad nasal bridge low-set posteriorly rotated ears and microstomia among others). Variable additional features have been reported such as seizures infantile hypotonia hearing impairment strabismus and urogenital anomalies. Brain imaging may show hypoplastic corpus callosum or mildly dilated ventricles.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Multiple benign circumferential skin creases on limbs?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
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