Lelis syndrome
MONDO:0012008Mondo
Findings
No curated finding names Lelis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.
Definition from the Mondo Disease Ontology (MONDO:0012008), read 2026-09-29. CC BY 4.0.
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Acanthosis nigricansHPOHP:0000956
- Obligate (100% of cases)
- HypohidrosisHPOHP:0000966
- Obligate (100% of cases)
- Sparse hairHPOHP:0008070
- Obligate (100% of cases)
- Abnormality of the mouthHPOHP:0000153
- Very frequent (80% to 99% of cases)
- Furrowed tongueHPOHP:0000221
- Frequent (30% to 79% of cases)
- HypodontiaHPOHP:0000668
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Nail dystrophyHPOHP:0008404
- Frequent (30% to 79% of cases)
- Palmoplantar hyperkeratosisHPOHP:0000972
- Frequent (30% to 79% of cases)
- Perioral hyperpigmentationHPOHP:0010802
- Frequent (30% to 79% of cases)
- Abnormal toenail morphologyHPOHP:0008388
- Occasional (5% to 29% of cases)
- Abnormally high-pitched voiceHPOHP:0001620
- Occasional (5% to 29% of cases)
Show the remaining 10
- Absent lower eyelashesHPOHP:0007646
- Occasional (5% to 29% of cases)
- Carious teethHPOHP:0000670
- Occasional (5% to 29% of cases)
- ExotropiaHPOHP:0000577
- Occasional (5% to 29% of cases)
- Long faceHPOHP:0000276
- Occasional (5% to 29% of cases)
- Mandibular prognathiaHPOHP:0000303
- Occasional (5% to 29% of cases)
- Midface retrusionHPOHP:0011800
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: Lelis syndrome
- Also called
- ectodermal dysplasia-acanthosis nigricans syndrome