Brachydactyly type B2
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A clinical subtype of brachydactyly type B characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachydactyly type B2 | |
| fr | Brachydactylie type B2 | |
| de | Brachydaktylie Typ B2 | |
| es | Braquidactilia tipo B2 | |
| it | Brachidattilia, tipo B2 | |
| nl | Brachydactylie type B2 | |
| pt | Braquidatilia tipo B2 | |
| pl | Brachydaktylia typu B2 | |
| cs | Brachydaktylie, typ B2 | |
| uk | Брахідактилія, тип В2 | |
| zh | 短指/趾B2型 | |
| tr | Brakidaktili tip B2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611377 | E | validated | |
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| ICD-11 | LD26.1 | NTBT | index | validated |
| MONDO | 0012658 | E | validated | |
| UMLS | C1969652 | 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 |
|---|---|---|---|---|---|---|---|---|
| NOG | Disease-causing germline mutation(s) in | Assessed | HGNC:7866 | ENSG00000183691 | 602991 | 17q22 | noggin | 17668388[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
9 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001817 | Absent fingernail | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0001857 | Short distal phalanx of toe | |
| HP:0001773 | Short foot | |
| HP:0001831 | Short toe | |
| HP:0005831 | Type B brachydactyly | |
| Frequent (79-30%) | ||
| HP:0006101 | Finger syndactyly | |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | |
| HP:0005048 | Synostosis of carpal bones | |
Run the differential on the 6 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/140908
- This record as JSON: /data/d/140908.json