Macrodactyly of toes
Synonyms: Macrodactyly of foot
- 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 a foot. Enlargement may be progressive with disproportionate or static with proportionate growth and can be unilateral or bilateral. It typically occurs within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Macrodactyly of toes | Macrodactyly of foot |
| fr | Macrodactylie des orteils | Macrodactylie du pied |
| de | Makrodaktylie der Zehen | Makrodaktylie des Fußes |
| es | Macrodactilia de los dedos del pie | Macrodactilia del pie |
| it | Macrodattilia delle dita dei piedi | Macrodattilia dei piedi |
| nl | Macrodactylie van tenen | Macrodactylie van voet |
| pt | Macrodactilia dos dedos do pé | Macrodactilia do pé |
| pl | Makrodaktylia palców stopy | Makrodaktylia stopy |
| cs | Makrodaktylie prstů nohy | Makrodaktylie nohy |
| uk | Макродактилія пальців ніг | Макродактилія стопи |
| zh | 巨趾症 | 巨趾畸形 |
| tr | Ayak parmakların makrodaktilisi | Makrodaktili ayak |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 155500 | BTNT | validated | |
| ICD-10 | Q74.2 | NTBT | index | validated |
| ICD-11 | LB97.1 | E | specific | validated |
| MONDO | 0017475 | E | validated | |
| UMLS | C0158768 | E | validated | |
| GARD | 6951 | 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:295243Macrodactyly of toes, unilateral | Disease-causing somatic mutation(s) in | Assessed | HGNC:8975 | ENSG00000121879 | 171834 | 3q26.32 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | 24782230[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 3.8 / 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
17 annotations · validated 2024-02-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0100747 | Macrodactyly of toe | |
| Very frequent (99-80%) | ||
| HP:0010165 | Enlarged epiphyses of the toes | |
| Frequent (79-30%) | ||
| HP:0008371 | Abnormal metatarsal ossification | |
| HP:0008108 | Advanced tarsal ossification | |
| HP:0001783 | Broad metatarsal | |
| HP:0008082 | Medial deviation of the foot | |
| Occasional (29-5%) | ||
| HP:0005830 | Flexion contracture of toe | |
| HP:0001770 | Toe syndactyly | |
| Very rare (<4-1%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0001829 | Foot polydactyly | |
| HP:0001397 | Hepatic steatosis | |
| HP:0000047 | Hypospadias | |
| HP:0000023 | Inguinal hernia | |
| HP:0012032 | Lipoma | |
| HP:0008551 | Microtia | |
| HP:0002650 | Scoliosis | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 36175329[PMID]_33557883[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/295047
- This record as JSON: /data/d/295047.json