Rare diseases · Sign or symptom
Multiple cafe-au-lait spots
HP:0007565
What it means
The presence of six or more cafe-au-lait spots.
Rare diseases that can present with this33
Very common80–99%
7Common30–79%
10- 16p11.2p12.2microdeletion syndrome
- Cardiofaciocutaneous syndrome
- Carney complex
- Dyschromatosis universalis hereditaria
- Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
- Hidrotic ectodermal dysplasia, Halal type
- Hyperkeratosis-hyperpigmentation syndrome
- Inherited epidermodysplasia verruciformis
- Microcephalic osteodysplastic primordial dwarfism type II
- Proteus syndrome
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Multiple birthmarks · Multiple flat light-brown marks on skin
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.