Böök syndrome

Definition

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

Classification

Malformation syndrome

ORPHA code

1262

OMIM code

112300

ICD10 code

Q82.4

ICD11 code

LD27.0Y

*Soruce