hidrotic ectodermal dysplasia, Halal type
Findings
No curated finding names hidrotic ectodermal dysplasia, Halal type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, cafC)-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.
Definition from the Mondo Disease Ontology (MONDO:0015883), read 2026-09-29. CC BY 4.0.
Features
18 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.
- Abnormal dermatoglyphicsHPOHP:0007477
- Very frequent (80% to 99% of cases)
- Abnormal fingernail morphologyHPOHP:0001231
- Very frequent (80% to 99% of cases)
- Abnormal toenail morphologyHPOHP:0008388
- Very frequent (80% to 99% of cases)
- Abnormality of the genital systemHPOHP:0000078
- Very frequent (80% to 99% of cases)
- Absent eyebrowHPOHP:0002223
- Very frequent (80% to 99% of cases)
- Absent eyelashesHPOHP:0000561
- Very frequent (80% to 99% of cases)
Show the remaining 6
- TrichodysplasiaHPOHP:0002552
- Very frequent (80% to 99% of cases)
- Follicular hyperkeratosisHPOHP:0007502
- Frequent (30% to 79% of cases)
- Irregular menstruationHPOHP:0000858
- Frequent (30% to 79% of cases)
- Multiple cafe-au-lait spotsHPOHP:0007565
- Frequent (30% to 79% of cases)
- Supernumerary nippleHPOHP:0002558
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
3 names
Resolves to: hidrotic ectodermal dysplasia, Halal type
- Also called
- ectodermal dysplasia with skin anomalies and intellectual disabilityHalal-Setton-Wang syndrometrichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome