ORPHA:633211
Preaxial digit brachydactyly-webbed fingers
Synonyms: Preaxial brachydactyly, PAX3 type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare dysostosis with brachydactyly characterized by short digits predominantly on the preaxial (radial) side resulting in stub thumbs, short index fingers and a cutaneous web between the first and second fingers. No extraskeletal manifestations are present.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Preaxial digit brachydactyly-webbed fingers | Preaxial brachydactyly, PAX3 type |
| fr | Brachydactylie préaxiale à doigts palmés | |
| de | Präaxiale Brachydaktylie und Syndaktylie der Finger | Präaxiale Brachydaktylie Typ PAX3 |
| es | Braquidactilia digital preaxial-dedos palmeados | Braquidactilia preaxial tipo PAX3 |
| it | Brachidattilia preassiale delle dita e pliche interdigitali | Brachidattilia preassiale tipo PAX3 |
| nl | Preaxiale brachydactylie van digiti - syndactylie van vingers | Preaxiale brachydactylie, PAX3-type |
| pt | Braquidactilia digital pré-axial-dedos encurvados | Braquidactilia pré-axial tipo PAX3 |
| pl | Przedosiowa brachydaktylia - palce płetwiaste | = en |
| cs | Brachydaktylie preaxiálních prstů se syndaktylií | = en |
| uk | Брахідактилія преаксіальних пальців з переплетеними пальцями | Преаксіальна брахідактилія, тип PAX3 |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| MONDO | 0859005 | E | validated | |
| UMLS | C5816807 | 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:498451Dysostosis with brachydactyly without extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/633211
- This record as JSON: /data/d/633211.json