Polydactyly-myopia syndrome
historical
Synonyms: Czeizel-Brooser syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- historical
Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Polydactyly-myopia syndrome | Czeizel-Brooser syndrome |
| fr | Syndrome de polydactylie-myopie | Syndrome de Czeizel-Brooser |
| de | Polydaktylie - Myopie | Czeizel-Brooser-Syndrom |
| es | Síndrome de polidactilia-miopía | |
| it | Polidattilia - miopia | Sindrome di Czeizel-Brooser |
| nl | Polydactylie-myopiesyndroom | Czeizel-Broosersyndroom |
| pt | Síndrome de polidactilia-miopia | Síndrome Czeizel-Brooser |
| pl | Zespół polidaktylia-miopia | Zespół Czeizela i Broosera |
| cs | Syndrom zahrnující polydaktylii a myopii | Czeizelův-Brooserův syndrom · Czeizel-Brooserův syndrom |
| uk | Синдром полідактилії-міопії | Синдром Цейзеля-Брузера |
| zh | 多指(趾)畸形-近视综合征 | Czeizel-Brooser综合征 |
| tr | Polidaktili-miyopi sendromu | Czeizel-Brooser sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 174310 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0008268 | E | validated | |
| MeSH | C536331 | E | validated | |
| UMLS | C1868117 | E | validated | |
| GARD | 4413 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 3802559[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3802559[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
5 annotations · validated 2017-07-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000545 | Myopia | |
| HP:0001162 | Postaxial hand polydactyly | |
| Frequent (79-30%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0100541 | Femoral hernia | |
| HP:0000023 | Inguinal hernia | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2917
- This record as JSON: /data/d/2917.json