- Ataxia teleangiectatica (Louis-Bar-Syndrom)
- Chediak-Higashi-Syndrom
- Cowden-Syndrom
- Hemiatrophia facialis progressiva (Parry-Romberg-Syndrom
- Incontinentia pigmenti Bloch-Sulzberger
- Neurofibromatose Typ 1
- Neurofibromatose Typ II
- PHACE-Syndrom: „posteria fossa malformations, large facial hemangiomas, arterial anomalies, coarctation of the aorta, cardiac defects, eye abnormalities“.
- Schimmelpenning-Feuerstein-Mims-Syndrom
- Schwannomatose
- Sturge Weber Syndrom
- Tuberöse Sklerose
- Von-Hippel-Lindau-Syndrom (Retinozerebelläre Angiomatose)
