Orphanet: Multiple benign circumferential skin creases on limbs
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Multiple benign circumferential skin creases on limbs

Disease definition

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.

ORPHA:2505

Classification level: Disorder
  • Synonym(s):
    • CCSF
    • Circumferential skin creases, Kunze type
    • Congenital circumferential skin folds
    • Kunze-Riehm syndrome
  • Prevalence: -
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q82.8
  • OMIM: 156610  616734
  • UMLS: C0473586
  • MeSH: C537575
  • GARD: 3589
  • MedDRA: -

Detailed information

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