Böök syndrome

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.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 10

HPO ID Term Frequency
HP:0000164 Abnormality of the dentition Very frequent (99-80%)
HP:0000668 Hypodontia Very frequent (99-80%)
HP:0000975 Hyperhidrosis Very frequent (99-80%)
HP:0002216 Premature graying of hair Very frequent (99-80%)
HP:0200055 Small hand Very frequent (99-80%)
HP:0000189 Narrow palate Frequent (79-30%)
HP:0000534 Abnormal eyebrow morphology Frequent (79-30%)
HP:0001804 Hypoplastic fingernail Frequent (79-30%)
HP:0007477 Abnormal dermatoglyphics Frequent (79-30%)
HP:0007598 Bilateral single transverse palmar creases Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID