ORPHA:2435
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
Also called Westerhof-Beemer-Cormane syndrome
- Body system
- Skin diseases
- Inheritance pattern
- Unknown
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:2435 is classified under "Skin diseases" in the Orphanet nomenclature.
Common signs
- Melanocytic nevus
- Hypopigmented skin patches
- Irregular hyperpigmentation
- Macule
- Intellectual disability
- Short stature