ORPHA:1037
Arthrogryposis multiplex congenita
Synonyms: AMC · Multiple congenital arthrogryposis
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive
- Age of onset
- Neonatal
- Status
- active
A group of disorders characterized by congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement which leads secondarily to the contractures.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Arthrogryposis multiplex congenita | AMC · Multiple congenital arthrogryposis |
| fr | Arthrogrypose multiple congénitale | AMC |
| de | Arthrogryposis multiplex congenita | AMC · Multiple kongenitale Arthrogrypose |
| es | Artrogriposis múltiple congénita | AMC · Artrogriposis congénita múltiple |
| it | Artrogriposi multipla congenita | AMC · Amioplasia congenita · Artromiodisplasia congenita · Miodisplasia |
| nl | Arthrogryposis multiplex congenita | AMC · Meervoudige congenitale artrogrypose · Multipele congenitale artrogrypose |
| pt | Artrogripose múltipla congénita | Amioplasia congénita · Miodisplasia |
| pl | Wrodzona wielostawowa artrogrypoza | AMC · Amioplazja wrodzona · Amyoplasia congenita · Arthromyodysplasia congenita · Artromiodysplazja wrodzona · Miodysplazja · Wrodzona sztywność stawów |
| cs | Arthrogryposis multiplex congenita | AMC · Amyoplasia congenita · Vrozená artromyodysplázie · Myodysplázie · Mnohočetná vrozená artrogrypóza · Syndrom mnohočetných kloubních kontraktur |
| uk | Вроджений множинний артрогрипоз | AMC · Множинний вроджений артрогрипоз |
| zh | 先天性多发性关节挛缩 | 先天性多发性关节挛缩 |
| tr | Artrogripozis multipleks konjenita | AMC · Multi doğumsal artrogripozis |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q74.3 | E | specific | validated |
| MONDO | 0015168 | E | validated | |
| MONDO | 15168 | E | validated | |
| UMLS | C5779613 | E | validated | |
| GARD | 777 | E | validated | |
| MedDRA | 10051643 | 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 (2):
- ORPHA:109007Arthrogryposis syndrome
rare developmental anomalies during embryogenesis - ORPHA:723416Genetic arthrogryposis syndrome
rare genetic diseases
Children (23):
- ORPHA:2952Adducted thumbs-arthrogryposis syndrome, Christian type
- ORPHA:1150Arthrogryposis multiplex congenita-whistling face syndrome
- ORPHA:53696Arthrogryposis-anterior horn cell disease syndrome
- ORPHA:1485Arthrogryposis-hyperkeratosis syndrome, lethal form
- ORPHA:2697Arthrogryposis-renal dysfunction-cholestasis syndrome
- ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita
- ORPHA:664923Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome
- ORPHA:210163Congenital lethal myopathy, Compton-North type
- ORPHA:994Fetal akinesia deformation sequence
- ORPHA:2680Hypomyelination neuropathy-arthrogryposis syndrome
- ORPHA:1145Infantile-onset X-linked spinal muscular atrophy
- ORPHA:610569KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
- ORPHA:1149Kuskokwim syndrome
- ORPHA:439897Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
- ORPHA:498693MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
- ORPHA:2461Marden-Walker syndrome
- ORPHA:2547Microphthalmia-microtia-fetal akinesia syndrome
- ORPHA:2215Multiple pterygium-malignant hyperthermia syndrome
- ORPHA:1143Neurogenic arthrogryposis multiplex congenita
- ORPHA:611256Pontocerebellar hypoplasia type 12
- ORPHA:486811Prenatal-onset spinal muscular atrophy with congenital bone fractures
- ORPHA:2460Van den Ende-Gupta syndrome
- ORPHA:3454Wieacker-Wolff syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:1153OBSOLETE: Transient neonatal arthrogryposis referred to · inactive
- ORPHA:1155OBSOLETE: Arthrogryposis due to muscular dystrophy referred to · inactive
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Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 5.7 / 100 000 | Europe | Value and class | Validated | 22005589[PMID]_EUROCAT European surveillance of congenital anomalies[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 8.3 / 100 000 | Australia | Value and class | Validated | 9928642[PMID] |
| Prevalence at birth | 1-5 / 10 000 | — | Canada | Class only | Not yet validated | 21157886[PMID] |
| Point prevalence | Unknown | — | 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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1037
- This record as JSON: /data/d/1037.json