Böök syndrome

Orpha code: 1262OMIM code: 112300

Definicja

A rare autosomal dominant ectodermal dysplasia syndrome characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features may include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
1262
Kod OMIM
112300
Kod ICD10
Q82.4
Kod ICD11
LD27.0Y

No additional description.

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