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CHAND syndrome

Orpha number ORPHA1401
Prevalence of rare diseases <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD 10 code
  • Q82.4
MIM number
Synonym(s) Baughman syndrome
CHANDS
Curly hair - ankyloblepharon - nail dysplasia syndrome

Summary

CHAND is an acronym for Curly Hair-Ankyloblepharon-Nail Dysplasia syndrome. This combination of anomalies belongs to the group of ectodermal dysplasias and has been described in less than five patients. As indicated by the acronym, the affected patients had curly woollen scalp hair, partial fusion of the eyelids (ankyloblepharon), and hypoplastic nails. One of the reported patients also had bilateral commissural lip pits, alveolar synechia, and inferiorly attached frenulum. In this family the parents were consanguineous, and the mother and sister had congenital absence of some teeth. The condition is thought to be autosomal recessive with possible mild manifestations in heterozygotes. *Author: Orphanet (May 2004)*.

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