ORPHA:93387
Brachydactyly type E
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal
- Status
- active
Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachydactyly type E | |
| fr | Brachydactylie type E | |
| de | Brachydaktylie Typ E | |
| es | Braquidactilia tipo E | |
| it | Brachidattilia, tipo E | |
| nl | Brachydactylie type E | |
| pt | Braquidactilia tipo E | |
| pl | Brachydaktylia typu E | |
| cs | Brachydaktylie, typ E | |
| uk | Брахідактилія, тип Е | |
| zh | 短指（趾）畸形E型 | |
| tr | Brakidaktili tip E |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 113300 | E | validated | |
| OMIM | 613382 | BTNT | validated | |
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| ICD-11 | LD26.1 | NTBT | index | validated |
| MONDO | 0019677 | E | validated | |
| MeSH | C566194 | E | validated | |
| UMLS | C4315392 | E | validated | |
| GARD | 987 | 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.
Codes that Orphanet moved or referred to this one:
- ORPHA:93395Ballard syndrome moved to · inactive
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PTHLH | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9607 | ENSG00000087494 | 168470 | 12p11.22 | parathyroid hormone like hormone | 20170896[PMID] |
| HOXD13 | Disease-causing germline mutation(s) in | Assessed | HGNC:5136 | ENSG00000128714 | 142989 | 2q31.1 | homeobox D13 | 12649808[PMID] |
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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.
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HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010049 | Short metacarpal | |
| HP:0005863 | Type E brachydactyly | |
| Frequent (79-30%) | ||
| HP:0001382 | Joint hypermobility | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0010076 | Aplasia/Hypoplasia of the distal phalanx of the hallux | |
| HP:0002007 | Frontal bossing | |
| HP:0000256 | Macrocephaly | |
| HP:0010743 | Short metatarsal | |
| HP:0100560 | Upper limb asymmetry | |
Run the differential on the 2 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93387
- This record as JSON: /data/d/93387.json