Trichoodontoonychial dysplasia

Orpha code: 3355OMIM code: 275450

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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