Macrodactyly of fingers
Synonyms: Macrodactyly of hand
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare non-syndromic limb overgrowth characterized by isolated congenital enlargement of some or all tissue elements of one or more digits of the hand, typically within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter. The index finger is most commonly affected. If two or more digits are involved, these are always adjacent. The enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. Patients may experience pain and reduced range of motion.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Macrodactyly of fingers | Macrodactyly of hand |
| fr | Macrodactylie des doigts | Macrodactylie de la main |
| de | Makrodaktylie der Finger | Makrodaktylie der Hand |
| es | Macrodactilia de los dedos de la mano | Macrodactilia de la mano |
| it | Macrodattilia delle dita delle mani | Macrodattilia delle mani |
| nl | Macrodactylie van vingers | Macrodactylie van hand |
| pt | Macrodactilia dos dedos da mão | Macrodactilia da mão |
| pl | Makrodaktylia palców dłoni | Makrodaktylia dłoni |
| cs | Makrodaktylie prstů ruky | Makrodaktylie ruky |
| uk | Макродактилія пальців рук | Макродактилія кисті |
| zh | 巨指症 | 巨指畸形 |
| tr | Parmak makrodaktilisi | Makrodaktili el |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 155500 | BTNT | validated | |
| ICD-10 | Q74.0 | NTBT | attributed | validated |
| ICD-11 | LB97.0 | E | specific | validated |
| MONDO | 0017474 | E | validated | |
| MeSH | C537720 | E | validated | |
| UMLS | C0574044 | E | validated | |
| GARD | 8529 | 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:294953Non-syndromic limb overgrowth
rare developmental anomalies during embryogenesis; rare genetic diseases
Genes
0 direct · 1 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 |
|---|---|---|---|---|---|---|---|---|---|
| PIK3CA | ORPHA:295239Macrodactyly of fingers, unilateral | Disease-causing somatic mutation(s) in | Assessed | HGNC:8975 | ENSG00000121879 | 171834 | 3q26.32 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 23100325[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Validated | 39062202[PMID]_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
8 annotations · validated 2024-02-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0100746 | Macrodactyly of finger | |
| Frequent (79-30%) | ||
| HP:0005922 | Abnormal hand morphology | |
| HP:0004276 | Exostoses of hand bones | |
| HP:0100774 | Hyperostosis | |
| Occasional (29-5%) | ||
| HP:0012185 | Constrictive median neuropathy | |
| HP:0012186 | Entrapment neuropathy of the ulnar nerve at elbow | |
| HP:0006101 | Finger syndactyly | |
| HP:0010493 | Long metacarpals | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 37846420[PMID]_36175329[PMID]_32299688[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/295044
- This record as JSON: /data/d/295044.json