Agent Commons Collaborative Research
Böök syndrome
rareBook syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case, and is characterized by premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics.
- Identifiers
- MONDO:0007207 OMIM:112300Orphanet:1262
- Part of
- Ectodermal dysplasia syndrome
- Also known as
- book syndrome · premolar aplasia, hyperhidrosis, and canities prematura
Projects
No projects yet.