Brachydactyly type C
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare congenital limb malformation characterized by hypoplastic middle phalanges of fingers 2, 3, and 5, with relative sparing of finger 4, as well as hyperphalangy most commonly affecting fingers 2 and 3, shortening of the first metacarpal with short thumb, and ulnar deviation of fingers 2 and 3. The severity of the malformation is highly variable.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachydactyly type C | |
| fr | Brachydactylie type C | |
| de | Brachydaktylie Typ C | |
| es | Braquidactilia tipo C | |
| it | Brachidattilia tipo C | |
| nl | Brachydactylie type C | |
| pt | Braquidactilia tipo C | |
| pl | Brachydaktylia typu C | |
| cs | Brachydaktylie, typ C | |
| uk | Брахідактилія, тип С | |
| zh | 短指（趾）畸形C型 | |
| tr | Brakidaktili tip C |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 113100 | E | validated | |
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| ICD-11 | LD26.1 | NTBT | index | validated |
| MONDO | 0007221 | E | validated | |
| MeSH | C537093 | E | validated | |
| UMLS | C1862103 | E | validated | |
| GARD | 986 | 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
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BMPR1B | Candidate gene tested in | Not yet assessed | HGNC:1077 | ENSG00000138696 | 603248 | 4q22.3 | bone morphogenetic protein receptor type 1B | 16957682[PMID] |
| GDF5 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4220 | ENSG00000125965 | 601146 | 20q11.22 | growth differentiation factor 5 | 12357473[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal | |
| HP:0009495 | Pseudoepiphyses of the 2nd finger | |
| HP:0005819 | Short middle phalanx of finger | |
| HP:0009373 | Type C brachydactyly | |
| HP:0009465 | Ulnar deviation of finger | |
| Frequent (79-30%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0009606 | Complete duplication of distal phalanx of the thumb | |
| HP:0010579 | Cone-shaped epiphysis | |
| HP:0010743 | Short metatarsal | |
| HP:0009684 | Stippling of the epiphysis of the distal phalanx of the thumb | |
| Occasional (29-5%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0010508 | Metatarsus valgus | |
| HP:0004322 | Short stature | |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 18554391[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93384
- This record as JSON: /data/d/93384.json