pili torti-onychodysplasia syndrome
MONDO:0017321Mondo
Findings
No curated finding names pili torti-onychodysplasia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pili torti-onychodysplasia is a form of ectodermal dysplasia characterized by dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0017321), read 2026-09-29. CC BY 4.0.
Features
20 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.
- Ectodermal dysplasiaHPOHP:0000968
- Obligate (100% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Frequent (30% to 79% of cases)
- Absent eyebrowHPOHP:0002223
- Frequent (30% to 79% of cases)
- Absent eyelashesHPOHP:0000561
- Frequent (30% to 79% of cases)
- AlopeciaHPOHP:0001596
- Frequent (30% to 79% of cases)
- Alopecia universalisHPOHP:0002289
- Frequent (30% to 79% of cases)
- Brittle hairHPOHP:0002299
- Frequent (30% to 79% of cases)
- Cleft lipHPOHP:0410030
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- Congenital onychodystrophyHPOHP:0008394
- Frequent (30% to 79% of cases)
- Conjunctival hyperemiaHPOHP:0030953
- Frequent (30% to 79% of cases)
- Cutaneous syndactylyHPOHP:0012725
- Frequent (30% to 79% of cases)
Show the remaining 8
- Dry skinHPOHP:0000958
- Frequent (30% to 79% of cases)
- Eczematoid dermatitisHPOHP:0000964
- Frequent (30% to 79% of cases)
- Generalized keratosis follicularisHPOHP:0007439
- Frequent (30% to 79% of cases)
- KeloidsHPOHP:0010562
- Frequent (30% to 79% of cases)
- Nail dystrophyHPOHP:0008404
- Frequent (30% to 79% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Frequent (30% to 79% of cases)
Where it sits
- A kind of