ORPHA:2440
Isolated split hand-split foot malformation
Synonyms: Ectrodactyly · SHFM · Split hand foot malformation
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, congenital, bone development disorder characterized by a spectrum of terminal limb malformations including hypoplasia/absence of central rays of the hands and feet (that can occur in one to all four digits), variable degrees of median clefts of the hands and/or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/toe to a lobster claw-like appearance of the hands and feet. It can occur as an isolated malformation or it can be a feature in various syndromes.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated split hand-split foot malformation | Ectrodactyly · SHFM · Split hand foot malformation |
| fr | Malformation des mains et pieds fendus isolée | Ectrodactylie · SHFM |
| de | Isolierte Spalthand-Spaltfuß-Fehlbildung | Ektrodaktylie · SHFM · Spalthand-Spaltfuß-Fehlbildung |
| es | Malformación aislada de mano hendida-pie hendido | Ectrodactilia · Malformación de manos y pies hendidos · SHFM |
| it | Malformazione da schisi delle mani e dei piedi | Deformità a chela di aragosta · Ectrodattilia · Mani deformi a chela di aragosta · Mani e piedi deformi a chela di aragosta · SHFM |
| nl | Geïsoleerde gespleten hand-gespleten voet malformatie | Ectrodactylie · Gespleten hand-voetmisvorming · SHFM |
| pt | Malformação mão fendida-pé fendido isolada | Ectrodactilia das mãos e pés |
| pl | Rozszczep dłoni i stóp | Deformacja "szczypce homara · Ektrodaktylia · Malformacja rozszczep dłoni/stopy · SHFM |
| cs | Rozštěp ruky a nohy | Ektrodaktylie · SHFM · Klepetovitá ruka či noha |
| uk | Ізольована вада розщеплена кисть-розщеплена стопа | Ектродактилія · SHFM · Роздвоєна вада розвитку кисті та стопи |
| zh | 孤立型手足裂畸形 | 分裂手足畸形 |
| tr | İzole ayrık el-ayrık ayak malformasyonu | SHFM · Ektrodaktili · Bölünmüş el ayak malformasyonu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 183600 | E | validated | |
| OMIM | 225300 | BTNT | validated | |
| OMIM | 246560 | BTNT | validated | |
| OMIM | 313350 | BTNT | validated | |
| OMIM | 605289 | BTNT | validated | |
| OMIM | 606708 | BTNT | validated | |
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| ICD-11 | LB9B | NTBT | index | validated |
| MONDO | 0016576 | E | validated | |
| UMLS | C0265554 | E | validated | |
| GARD | 6319 | E | validated | |
| MedDRA | 10079827 | 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:498477Ectrodactyly with and without other manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:294935OBSOLETE: Split hand or/and split foot malformation referred to · inactive
- ORPHA:294992OBSOLETE: Split hand referred to · inactive
- ORPHA:294994OBSOLETE: Split foot referred to · inactive
- ORPHA:295120OBSOLETE: Split hand, unilateral referred to · inactive
- ORPHA:295122OBSOLETE: Split hand, bilateral referred to · inactive
- ORPHA:295124OBSOLETE: Split foot, unilateral referred to · inactive
- ORPHA:295126OBSOLETE: Split foot, bilateral referred to · inactive
4
Genes
8 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BTRC | Candidate gene tested in | Not yet assessed | HGNC:1144 | ENSG00000166167 | 603482 | 10q24.32 | beta-transducin repeat containing E3 ubiquitin protein ligase | 24115638[PMID]_16691619[PMID] |
| SEM1 | Candidate gene tested in | Not yet assessed | HGNC:10845 | ENSG00000127922 | 601285 | 7q21.3 | SEM1 26S proteasome subunit | 23169702[PMID] |
| EPS15L1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:24634 | ENSG00000127527 | 616826 | 19p13.11 | epidermal growth factor receptor pathway substrate 15 like 1 | 29023680[PMID] |
| DLX5 | Disease-causing germline mutation(s) in | Assessed | HGNC:2918 | ENSG00000105880 | 600028 | 7q21.3 | distal-less homeobox 5 | 24496061[PMID] |
| DLX6 | Disease-causing germline mutation(s) in | Assessed | HGNC:2919 | ENSG00000006377 | 600030 | 7q21.3 | distal-less homeobox 6 | 28611547[PMID] |
| TP63 | Disease-causing germline mutation(s) in | Assessed | HGNC:15979 | ENSG00000073282 | 603273 | 3q28 | tumor protein p63 | 10839977[PMID] |
| WNT10B | Disease-causing germline mutation(s) in | Assessed | HGNC:12775 | ENSG00000169884 | 601906 | 12q13.12 | Wnt family member 10B | 18515319[PMID]_20635353[PMID] |
| FBXW4 | Role in the phenotype of | Assessed | HGNC:10847 | ENSG00000107829 | 608071 | 10q24.32 | F-box and WD repeat domain containing 4 | 16235095[PMID] |
5
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 5.4 / 100 000 | Europe | Value and class | Validated | 8766141[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 16.4 / 100 000 | China | Value and class | Validated | 20506663[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 5.1 / 100 000 | Canada | Value and class | Validated | 20506663[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6 / 100 000 | Hungary | Value and class | Validated | ISBN:9630566311[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 6 / 100 000 | United States | Value and class | Validated | 11581472[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet 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.
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HPO phenotypes
8 annotations · validated 2024-10-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012165 | Oligodactyly | |
| Frequent (79-30%) | ||
| HP:0006101 | Finger syndactyly | |
| HP:0004058 | Hand monodactyly | |
| HP:0001839 | Split foot | |
| Occasional (29-5%) | ||
| HP:0004050 | Absent hand | |
| HP:0000526 | Aniridia | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001171 | Split hand | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 24115638[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2440
- This record as JSON: /data/d/2440.json