Hidrotic ectodermal dysplasia, Christianson-Fourie type

Orpha code: 1808OMIM code: 601375

Definition

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
Classification

Malformation syndrome

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

No additional description.

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