ORPHA:2396
Encephalocraniocutaneous lipomatosis
Also called Haberland syndrome
- Body system
- Skin diseases
- Inheritance pattern
- Not applicable
- Typical age of onset
- Antenatal, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:2396 is classified under "Skin diseases" in the Orphanet nomenclature.
Common signs
- Retinopathy
- Xanthomatosis
- Multiple lipomas
- Intellectual disability
- Seizure
- Global developmental delay