Autosomal recessive myogenic arthrogryposis multiplex congenita
Synonyms: Autosomal recessive myogenic AMC · SYNE1-related AMC · SYNE1-related arthrogryposis multiplex congenita
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited neuromuscular disease characterized by prenatal presentation (usually in the second trimester) of reduced fetal movements and abnormal positioning resulting in joint abnormalities that may involve both lower and upper extremities and is usually symmetric, severe hypotonia at birth with bilateral club foot, motor development delay, mild facial weakness without opthalmoplegia, absent deep tendon reflexes, normal motor and sensory nerve conduction velocities, no cerebellar or pyramidal involvement, and progressive disease course with loss of ambulation after the first decade of life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive myogenic arthrogryposis multiplex congenita | Autosomal recessive myogenic AMC · SYNE1-related AMC · SYNE1-related arthrogryposis multiplex congenita |
| fr | Arthrogrypose multiple congénitale myogénique autosomique récessive | AMC myogénique autosomique récessive · Arthrogrypose multiple congénitale associée à SYNE1 |
| de | Myogene Arthrogryposis multiplex congenita, autosomal-rezessive | AMC, myogene, autosomal-rezessive · Arthrogryposis multiplex congenita, SYNE1-abhängige · SYNE1-abhängige AMC |
| es | Artrogriposis múltiple congénita miogénica autosómica recesiva | AMC asociada a SYNE1 · AMC miogénica autosómica recesiva · Artrogriposis múltiple congénita asociada a SYNE1 |
| it | Artrogriposi multipla congenita miogenica autosomica recessiva | AMC associato a SYNE1 · AMC miogenico autosomico recessivo · Artrogriposi multipla congenita associata a SYNE1 |
| nl | Autosomaal recessieve myogene arthrogryposis multiplex congenita | Autosomaal recessieve myogene AMC · SYNE1-gerelateerde AMC · SYNE1-gerelateerde arthrogryposis multiplex congenita |
| pt | Artrogripose miogénica multiplex congénita autossómica recessiva | |
| pl | Autosomalna recesywna miogeniczna artrogrypoza | AMC zwiaząna z SYNE1 · Artrogrypoza związana z SYNE1 · Autosomalna recesywna miogeniczna AMC |
| cs | Autozomálně recesivní myogenní artrogryposis multiplex congenita | SYNE1-vázaná AMC · SYNE1-vázaná artrogryposis multiplex congenita · Autozomálně recesivní myogenní AMC |
| uk | Аутосомно-рецесивний міогенний артрогрипоз мультиплексний вроджений | Аутосомно-рецесивна міогенна АМС · AMC, повязані з SYNE1 · Вроджений мультиплексний артрогрипоз, повязаний з SYNE1 |
| zh | 常染色体隐性遗传多发性先天性肌源性关节病 | SYNE1基因相关多发性先天性关节病 |
| tr | Otozomal resesif miyojenik artrogripozis multipleks konjenita | SYNE1-ilişkili AMC · Otozomal çekinik miyojenik AMC · SYNE1-ilişkili artrogripozis multipleks konjenita |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618484 | E | validated | |
| ICD-10 | Q74.3 | NTBT | attributed | validated |
| MONDO | 0017892 | E | validated | |
| UMLS | C4707155 | 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 (2):
- ORPHA:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:97242Congenital muscular dystrophy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SYNE1 | Disease-causing germline mutation(s) in | Assessed | HGNC:17089 | ENSG00000131018 | 608441 | 6q25.2 | spectrin repeat containing nuclear envelope protein 1 | 19542096[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 19542096[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19542096[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.
HPO phenotypes
30 annotations · validated 2022-11-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0430025 | Bilateral facial palsy | |
| HP:0001776 | Bilateral talipes equinovarus | |
| HP:0001558 | Decreased fetal movement | |
| HP:0030200 | Fatiguable weakness of proximal limb muscles | |
| HP:0008935 | Generalized neonatal hypotonia | |
| HP:0001265 | Hyporeflexia | |
| HP:0002540 | Inability to walk | |
| HP:0001270 | Motor delay | |
| Frequent (79-30%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0002650 | Scoliosis | |
| Occasional (29-5%) | ||
| HP:0001181 | Adducted thumb | |
| HP:0005191 | Congenital knee dislocation | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0005469 | Flat occiput | |
| HP:0012785 | Flexion contracture of finger | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0003391 | Gowers sign | |
| HP:0001188 | Hand clenching | |
| HP:0001249 | Intellectual disability | |
| HP:0000276 | Long face | |
| HP:0000343 | Long philtrum | |
| HP:0000400 | Macrotia | |
| HP:0031729 | Moderate hypermetropia | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0001518 | Small for gestational age | |
| HP:0000486 | Strabismus | |
| Excluded (0%) | ||
| HP:0040081 | Abnormal circulating creatine kinase concentration | |
| HP:0000252 | Microcephaly | |
| HP:0001561 | Polyhydramnios | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 35739559[PMID]_27782104[PMID]_19542096[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/319332
- This record as JSON: /data/d/319332.json