Böök syndrome
Findings
No curated finding names Böök syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Book 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.
Definition from the Mondo Disease Ontology (MONDO:0007207), read 2026-09-29. CC BY 4.0.
Features
10 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- HyperhidrosisHPOHP:0000975
- Very frequent (80% to 99% of cases)
- HypodontiaHPOHP:0000668
- Very frequent (80% to 99% of cases)
- Premature graying of hairHPOHP:0002216
- Very frequent (80% to 99% of cases)
- Small handHPOHP:0200055
- Very frequent (80% to 99% of cases)
- Abnormal dermatoglyphicsHPOHP:0007477
- Frequent (30% to 79% of cases)
- Abnormal eyebrow morphology
Where it sits
- A kind of
Other names
1 name
Resolves to: Böök syndrome
- Also called
- book syndrome