Brachydactyly type A2
Synonyms: Brachydactyly, Mohr-Wriedt type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, congenital limb malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachydactyly type A2 | Brachydactyly, Mohr-Wriedt type |
| fr | Brachydactylie type A2 | Brachydactylie de Mohr-Wriedt |
| de | Brachydaktylie Typ A2 | Brachydaktylie Typ Mohr-Wriedt |
| es | Braquidactilia tipo A2 | Braquidactilia tipo Mohr-Wriedt |
| it | Brachidattilia, tipo A2 | Brachidattilia, tipo Mohr-Wriedt |
| nl | Brachydactylie type A2 | Brachydactylie, Mohr-Wriedt-type |
| pt | Braquidactilia tipo A2 | Braquidactilia tipo Mohr-Wriedt |
| pl | Brachydaktylia typu A2 | Brachydaktylia, Mohra i Wriedta |
| cs | Brachydaktylie, typ A2 | Brachydaktylie, Mohrův-Wriedtův typ · Brachydaktylie, Mohr-Wriedtův typ |
| uk | Брахідактилія, тип А2 | Брахідактилія, тип Мор-Врідта |
| zh | 短指（趾）畸形A2型 | 短指（趾）畸形，Mohr-Wriedt型 |
| tr | Brakidaktili tip A2 | Brakidaktili, Mohr-Wriedt tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 112600 | E | validated | |
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| ICD-11 | LD26.1 | NTBT | index | validated |
| MONDO | 0007216 | E | validated | |
| MeSH | C537089 | E | validated | |
| UMLS | C1832702 | E | validated | |
| GARD | 979 | 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:498451Dysostosis with brachydactyly without extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BMP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1069 | ENSG00000125845 | 112261 | 20p12.3 | bone morphogenetic protein 2 | 19327734[PMID]_24710560[PMID] |
| BMPR1B | Disease-causing germline mutation(s) in | Assessed | HGNC:1077 | ENSG00000138696 | 603248 | 4q22.3 | bone morphogenetic protein receptor type 1B | 14523231[PMID] |
| GDF5 | Disease-causing germline mutation(s) in | Assessed | HGNC:4220 | ENSG00000125965 | 601146 | 20q11.22 | growth differentiation factor 5 | 16014698[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_18554391[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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009372 | Type A2 brachydactyly | |
| Frequent (79-30%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001773 | Short foot | |
| Occasional (29-5%) | ||
| HP:0009568 | Aplasia/Hypoplasia of the middle phalanx of the 2nd finger | |
| HP:0010038 | Short 2nd metacarpal | |
| HP:0005819 | Short middle phalanx of finger | |
| HP:0004220 | Short middle phalanx of the 5th finger | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 18554391[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93396
- This record as JSON: /data/d/93396.json