Trichodermodysplasia-dental alterations syndrome

Orpha code: 3353OMIM code:

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, café-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.

Disease data
Classification

Malformation syndrome

Synonyms
Pinheiro-Freire Maia-Miranda syndrome
Zespół Pinheiro, Freire Maia i Miranda
ORPHA code
3353
OMIM code
-
ICD10 code
Q82.4
ICD11 code
LD27.0Y

No additional description.

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