Rare diseases · Sign or symptom
Cafe-au-lait spot
HP:0000957
What it means
Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
The phrase cafe-au-lait comes from the French word for milk-coffee. A single cafe-au-lait spot can be an isolated finding in otherwise normal individuals. Multiple cafe-au-lait spots often indicate the presence of neurofibromatosis type 1 but may also be seen in other diseases including McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia.
In everyday care
Most people with this sign do not have a rare disease — it appears in common conditions far more often. These general reference pages cover the same topic:
Rare diseases that can present with this26
Common30–79%
4Sometimes5–29%
19- 19p13.13microdeletion syndrome
- 2q23.1microduplication syndrome
- 9p13microdeletion syndrome
- Brachydactyly-short stature-retinitis pigmentosa syndrome
- Distal Xq28 microduplication syndrome
- Growth delay due to insulin-like growth factor type 1 deficiency
- Intellectual disability-balding-patella luxation-acromicria syndrome
- Intellectual disability-brachydactyly-Pierre Robin syndrome
and 11 more in this range
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: Birthmark · Cafe au lait spots · Cafe-au-lait macule · Cafe-au-lait macules · Cafe-au-lait spots · Flat light-brown mark 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.