pilodental dysplasia-refractive errors syndrome
Findings
No curated finding names pilodental dysplasia-refractive errors syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.
Definition from the Mondo Disease Ontology (MONDO:0009873), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
2 names
Resolves to: pilodental dysplasia-refractive errors syndrome
- Also called
- Euhidrotic ectodermal dysplasiaKopysc-Barczyk-Krol syndrome