ORPHA:93388
Brachydactyly type A1
Synonyms: Brachydactyly, Farabee type
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachydactyly type A1 | Brachydactyly, Farabee type |
| fr | Brachydactylie type A1 | Brachydactylie type Farabee |
| de | Brachydaktylie Typ A1 | Brachydaktylie Typ Farabee |
| es | Braquidactilia tipo A1 | |
| it | Brachidattilia, tipo A1 | Brachidattilia, tipo Farabee |
| nl | Brachydactylie type A1 | Brachydactylie, Farabee-type |
| pt | Braquidactilia tipo A1 | Braquidactilia, tipo Farabee |
| pl | Brachydaktylia typu A1 | Brachydaktylia, typ Farabee |
| cs | Brachydaktylie, typ A1 | Brachydaktylie, Farabeeův typ |
| uk | Брахідактилія, тип А1 | Брахідактилія, тип Фарабея |
| zh | 短指（趾）畸形A1型 | 短指（趾）畸形，Farabee型 |
| tr | Brakidaktili tip A1 | Brakidaktili, Farabee tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 112500 | E | validated | |
| OMIM | 607004 | BTNT | validated | |
| OMIM | 615072 | BTNT | validated | |
| OMIM | 616849 | BTNT | validated | |
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| ICD-11 | LD26.1 | NTBT | index | validated |
| MONDO | 0007215 | E | validated | |
| MeSH | C537088 | E | validated | |
| UMLS | C1862151 | E | validated | |
| GARD | 978 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BMPR1B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1077 | ENSG00000138696 | 603248 | 4q22.3 | bone morphogenetic protein receptor type 1B | 25758993[PMID] |
| GDF5 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4220 | ENSG00000125965 | 601146 | 20q11.22 | growth differentiation factor 5 | 20683927[PMID] |
| IHH | Disease-causing germline mutation(s) in | Assessed | HGNC:5956 | ENSG00000163501 | 600726 | 2q35 | Indian hedgehog signaling molecule | 11455389[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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.
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HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001773 | Short foot | |
| HP:0010109 | Short hallux | |
| HP:0005819 | Short middle phalanx of finger | |
| HP:0004322 | Short stature | |
| HP:0009778 | Short thumb | |
| Frequent (79-30%) | ||
| HP:0010579 | Cone-shaped epiphysis | |
| Occasional (29-5%) | ||
| HP:0001230 | Broad metacarpals | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0001204 | Distal symphalangism (hands) | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0002650 | Scoliosis | |
| HP:0001762 | Talipes equinovarus | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93388
- This record as JSON: /data/d/93388.json