ORPHA:1262
Böök syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Böök syndrome | |
| fr | Syndrome de Böök | |
| de | Böök-Syndrom | |
| es | Síndrome de Böök | |
| it | Sindrome di Böök | |
| nl | Syndroom van Böök | |
| pt | Síndrome Böök | |
| pl | Zespół Bööka | |
| cs | Böökův syndrom | |
| uk | Синдром Бьока | |
| zh | B÷÷k综合征 | |
| tr | Böök sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 112300 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0007207 | E | validated | |
| MeSH | C562993 | E | validated | |
| UMLS | C0457014 | E | validated | |
| GARD | 932 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 26 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0000975 | Hyperhidrosis | |
| HP:0000668 | Hypodontia | |
| HP:0002216 | Premature graying of hair | |
| HP:0200055 | Small hand | |
| Frequent (79-30%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0001804 | Hypoplastic fingernail | |
| HP:0000189 | Narrow palate | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1262
- This record as JSON: /data/d/1262.json