hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
Findings
No curated finding names hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome is characterized by alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction (primary hypothyroidism), hypohidrosis, ephelides, enteropathy, and respiratory tract infections due to ciliary dyskinesia, leading to suggestion of the acronym ANother syndrome as alternative name for this condition. It has been described in three patients (two brothers and an unrelated girl). Transmission is autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0009150), read 2026-09-29. CC BY 4.0.
Features
15 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.
- AlopeciaHPOHP:0001596
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- Ciliary dyskinesiaHPOHP:0012265
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Dystrophic fingernailsHPOHP:0008391
- Very frequent (80% to 99% of cases)
- Dystrophic toenailHPOHP:0001810
- Very frequent (80% to 99% of cases)
Show the remaining 3
- Sparse scalp hairHPOHP:0002209
- Very frequent (80% to 99% of cases)
- Lacrimation abnormalityHPOHP:0000632
- Frequent (30% to 79% of cases)
- Melanocytic nevusHPOHP:0000995
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
- Also called
- another syndromeHEDH syndrome