trichodermodysplasia-dental alterations syndrome
Findings
No curated finding names trichodermodysplasia-dental alterations syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, cafC)-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.
Definition from the Mondo Disease Ontology (MONDO:0018061), 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.
- Abnormal dental morphologyHPOHP:0006482
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the eyebrowHPOHP:0100840
- Very frequent (80% to 99% of cases)
- Brittle hairHPOHP:0002299
- Very frequent (80% to 99% of cases)
- Fine hairHPOHP:0002213
- Very frequent (80% to 99% of cases)
- Neoplasm of the skinHPOHP:0008069
- Very frequent (80% to 99% of cases)
- Sparse or absent eyelashesHPOHP:0200102
- Very frequent (80% to 99% of cases)
Show the remaining 7
- Sparse lateral eyebrowHPOHP:0005338
- Frequent (30% to 79% of cases)
- Supernumerary toothHPOHP:0011069
- Frequent (30% to 79% of cases)
- Abnormal hip bone morphologyHPOHP:0003272
- Occasional (5% to 29% of cases)
- Abnormal morphology of female internal genitaliaHPOHP:0000008
- Occasional (5% to 29% of cases)
- Adenoma sebaceumHPOHP:0009720
- Occasional (5% to 29% of cases)
- High hypermetropiaHPOHP:0008499
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: trichodermodysplasia-dental alterations syndrome
- Also called
- Pinheiro-Freire Maia-Miranda syndrome