Brachydactyly type B
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal
- Status
- active
A rare congenital limb malformation syndrome characterized by hypoplasia or aplasia of the terminal parts of fingers 2 to 5, with complete absence of the fingernails. The thumbs are always intact but frequently show flattening, splitting or duplication of the distal phalanges. Digits on the radial side of the hand are less severely affected than those on the ulnar side. The feet are similarly affected but less severely. Soft tissue syndactyly, symphalangism, carpal and/or tarsal fusions and shortening of metacarpals and/or metatarsals may be present.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachydactyly type B | |
| fr | Brachydactylie type B | |
| de | Brachydaktylie Typ B | |
| es | Braquidactilia tipo B | |
| it | Brachidattilia, tipo B | |
| nl | Brachydactylie type B | |
| pt | Braquidactilia tipo B | |
| pl | Brachydaktylia typu B | |
| cs | Brachydaktylie, typ B | |
| uk | Брахідактилія, тип В | |
| zh | 短指（趾）畸形B型 | |
| tr | Brakidaktili tip B |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 113000 | BTNT | validated | |
| OMIM | 611377 | BTNT | validated | |
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| ICD-11 | LD26.1 | NTBT | index | validated |
| MONDO | 0019676 | E | validated | |
| UMLS | C1300267 | E | validated | |
| GARD | 985 | 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
Codes that Orphanet moved or referred to this one:
- ORPHA:93389Brachydactyly type A5 moved to · inactive
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| ROR2 | ORPHA:572385Brachydactyly type B1 | 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] |
| NOG | ORPHA:140908Brachydactyly type B2 | Disease-causing germline mutation(s) in | Assessed | HGNC:7866 | ENSG00000183691 | 602991 | 17q22 | noggin | 17668388[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_18554391[PMID] |
| 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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008083 | 2nd-5th toe middle phalangeal hypoplasia | |
| HP:0001817 | Absent fingernail | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0001773 | Short foot | |
| HP:0010049 | Short metacarpal | |
| HP:0005831 | Type B brachydactyly | |
| Occasional (29-5%) | ||
| HP:0010059 | Broad hallux phalanx | |
| 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
Annotation source: 18554391[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93383
- This record as JSON: /data/d/93383.json