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trichodermodysplasia-dental alterations syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

trichodermodysplasia-dental alterations syndrome

MONDO:0018061

Also known as:Pinheiro-Freire Maia-Miranda syndromeTrichodermodysplasia with dental alterations

Overview

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.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Sparse scalp hair, Fine hair, Brittle hair, and Abnormal dental morphology and others; and common findings: Delayed eruption of teeth, Palmoplantar keratoderma, Sideways curvature of the spine (scoliosis), and Excessive inward curvature of the lower spine (hyperlordosis) and others. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	3

Prognosis

Phenotype severity distribution: 8 very common features, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 7:15 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:3353

GARD

Genetic and Rare Diseases Info Center

GARD:4369

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trichodermodysplasia-dental alterations syndrome

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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