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Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome

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Disease definition

Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978.

ORPHA:2435

Classification level: Disorder

Synonym(s):
  • Westerhof-Beemer-Cormane syndrome

Prevalence: <1 / 1 000 000

Inheritance: Unknown

Age of onset: Infancy, Neonatal

UMLS: C1835172

MeSH: C537836

GARD: 3347

A summary on this disease is available in Français (2017) Español (2017) Deutsch (2017) Italiano (2017) Nederlands (2017)
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