Hidrotic ectodermal dysplasia, Christianson-Fourie type

Orpha code: 1808OMIM code: 601375

Definicja

Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachicardia or sinus bradicardia.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Christianson-Fourie syndrome
Zespół Christianson i Fourie
Kod ORPHA
1808
Kod OMIM
601375
Kod ICD10
Q82.8
Kod ICD11
LD27.0Y

No additional description.

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