Trichoodontoonychial dysplasia

Orpha code: 3355OMIM code: 275450

Definition

Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (incl. nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.

Disease data
Classification

Malformation syndrome

Synonyms
Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region
Tricho-odonto-onychial dysplasia with bone deficiency in frontoparietal region
ORPHA code
3355
OMIM code
275450
ICD10 code
Q82.4
ICD11 code
LD27.0Y

No additional description.

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