Brachydactyly type B1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal
- Status
- active
A rare subtype of brachydactyly type B characterized by hypoplasia or aplasia of the distal phalanges of digits 2-5 with or without nail dysplasia, in association with fusion of the middle and distal phalanges, a broad or bifid thumb, and occasionally distal and proximal symphalangism or syndactyly. The feet are less severely affected than the hands.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachydactyly type B1 | |
| fr | Brachydactylie type B1 | |
| de | Brachydaktylie Typ B1 | |
| es | Braquidactilia tipo B1 | |
| it | Brachidattilia tipo B1 | |
| nl | Brachydactylie type B1 | |
| pt | Braquidactilia tipo B1 | |
| pl | Brachydaktylia typ B1 | |
| cs | Brachydaktylie, typ B1 | |
| uk | Брахідактилія, тип В1 | |
| zh | B1型短指/趾 | |
| tr | Brakidaktili tip B1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 113000 | E | validated | |
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| ICD-11 | LD26.1 | NTBT | attributed | validated |
| MONDO | 0007220 | E | validated | |
| MeSH | C566196 | E | validated | |
| UMLS | C1862112 | 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:93383Brachydactyly type B
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ROR2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:10257 | ENSG00000169071 | 602337 | 9q22.31 | receptor tyrosine kinase like orphan receptor 2 | 24954533[PMID]_18554391[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/572385
- This record as JSON: /data/d/572385.json