Multiple benign circumferential skin creases on limbs

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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 May 2024

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Multiple benign circumferential skin creases on limbs?

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