Orphanet: Hypo and hypermelanotic cutaneous macules retarded growth intellectual disability syndrome

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

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: Neonatal, Infancy
ICD-10: -
OMIM: -
UMLS: C1835172
MeSH: -
GARD: 3347
MedDRA: -

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

ORPHA:2435

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