Böök syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PHC SYNDROME |
| Number of Symptoms | 17 |
| OrphanetNr: | 1262 |
| OMIM Id: |
112300
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| ICD-10: |
Q82.4 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 26 cases [Orphanet] |
| Inheritance: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Ectodermal dysplasia syndrome
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare skin disease |
Symptom Information:
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(HPO:0009804) | Reduced number of teeth | Very frequent [Orphanet] | 137 / 7739 | |||
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(HPO:0000164) | Abnormality of the teeth | Very frequent [Orphanet] | 291 / 7739 | |||
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(HPO:0000534) | Abnormality of the eyebrow | Frequent [Orphanet] | 39 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0001357) | Plagiocephaly | Very frequent [Orphanet] | 106 / 7739 | |||
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(HPO:0000668) | Hypodontia | 81 / 7739 | ||||
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(HPO:0200055) | Small hand | Very frequent [Orphanet] | 71 / 7739 | |||
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(HPO:0000954) | Single transverse palmar crease | Frequent [Orphanet] | 162 / 7739 | |||
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(HPO:0007410) | Palmoplantar hyperhidrosis | 6 / 7739 | ||||
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(HPO:0000975) | Hyperhidrosis | 64 / 7739 | ||||
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(HPO:0001231) | Abnormality of the fingernails | Frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0002216) | Premature graying of hair | Very frequent [Orphanet] | 43 / 7739 | |||
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(HPO:0007477) | Abnormal dermatoglyphics | Frequent [Orphanet] | 72 / 7739 | |||
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(OMIM) | Bicuspid hypodontia | 1 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Canities prematura (premature whitening of hair, onset 6-23 years) | 1 / 7739 | ||||
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(OMIM) | Normal nails | 15 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Book (1950) reported 25 persons in 4 generations of a Swedish family with premolar aplasia, hyperhidrosis, and canities prematura. The author designated the disorder PHC syndrome. Salinas et al. (1992) described an 18-year-old Caucasian woman with ... |