Dysostosis with brachydactyly
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A group of rare disorders characterized by brachydactyly due to abnormal development of the phalanges and/or metacarpals. Brachydactyly is part of a group of limb malformations characterized by dysostosis, involving abnormal development of individual bones, either in isolation or in combination with other skeletal abnormalities. These disorders primarily affect the skeleton, although extraskeletal manifestations may also occur.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dysostosis with brachydactyly | |
| fr | Dysostose avec brachydactylie | |
| de | Dysostose mit Brachydaktylie | |
| es | Disostosis con braquidactilia | |
| it | Sindrome con brachidattilia | |
| nl | Dysostose met brachydactylie | |
| pt | Disostose com braquidactilia | |
| pl | Zespoły z brachydaktylią | |
| cs | Syndrom s brachydaktylií | |
| uk | Дизостоз з брахідактилією | |
| zh | 骨发育不良伴短指畸形 | |
| tr | Brakidaktili ile seyreden disostoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 19066 | E | validated | |
| UMLS | C5681270 | 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 (4):
- ORPHA:404571Dysostosis of genetic origin with limb anomaly as a major feature
rare genetic diseases - ORPHA:364568Dysostosis with limb anomaly as a major feature
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:404577Genetic syndrome with limb malformations as a major feature
rare genetic diseases - ORPHA:109009Syndrome with limb malformations as a major feature
rare developmental anomalies during embryogenesis
Codes that Orphanet moved or referred to this one:
- ORPHA:93456OBSOLETE: Brachydactyly group referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/69028
- This record as JSON: /data/d/69028.json