ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
Findings
No curated finding names ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterized by severe generalized lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjogren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987.
Definition from the Mondo Disease Ontology (MONDO:0009444), read 2026-09-29. CC BY 4.0.
Features
19 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.
- Absent axillary hairHPOHP:0002221
- Very frequent (80% to 99% of cases)
- Absent pubic hairHPOHP:0002555
- Very frequent (80% to 99% of cases)
- Alopecia of scalpHPOHP:0002293
- Very frequent (80% to 99% of cases)
- Congenital alopecia totalisHPOHP:0005597
- Very frequent (80% to 99% of cases)
- Generalized ichthyosisHPOHP:0007503
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
Show the remaining 7
- Epidermal acanthosisHPOHP:0025092
- Frequent (30% to 79% of cases)
- Generalized hyperkeratosisHPOHP:0005595
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Scaling skinHPOHP:0040189
- Frequent (30% to 79% of cases)
- Unsteady gaitHPOHP:0002317
- Frequent (30% to 79% of cases)
- Absent speechHPOHP:0001344
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
- Also called
- Jagell-Holmgren-Hofer syndrome