Search for a rare disease
Other search option(s)
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: -
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.