ORPHA:1154
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Synonyms: Distal arthrogryposis type 5 · Distal arthrogryposis type IIB · Distal arthrogryposis with ophthalmoplegia · Oculomelic amyoplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome | Distal arthrogryposis type 5 · Distal arthrogryposis type IIB · Distal arthrogryposis with ophthalmoplegia · Oculomelic amyoplasia |
| fr | Arthrogrypose avec limitation du champ oculomoteur | Amyoplasie oculomélique · Arthrogrypose distale type 5 · Arthrogrypose distale type IIB |
| de | Syndrom der Arthrogryposis mit okulomotorischen Einschränkungen und elektroretinalen Anomalien | Arthrogrypose, distale, Typ 5 · Arthrogrypose, distale, Typ IIB · Distale Arthrogrypose mit Ophtalmoplegie · Okulomele Amyoplasie |
| es | Síndrome de artrogriposis-limitaciones óculo-motoras-anomalías electro-retinianas | Amioplasia oculomélica · Artrogriposis distal con oftalmoplejía · Artrogriposis distal tipo 5 · Artrogriposis distal tipo IIB |
| it | Artrogriposi con limitazione oculomotoria ed anomalie dell'attività elettrica della retina | Amioplasia oculomelica · Artrogriposi distale con oftalmoplegia · Artrogriposi distale, tipo 5 · Artrogriposi distale, tipo IIB |
| nl | Artrogrypose - oculomotorische beperkingen - elektroretinale anomalieën-syndroom | Distale artrogrypose met oftalmoplegie · Distale artrogrypose type 5 · Distale artrogrypose type IIB · Oculomelische amyoplasie |
| pt | Síndrome de artrogripose-limitação oculomotora-anomalias eletroretinianas | Amioplasia oculomélica · Artrogripose distal tipo 5 · Artrogripose distal tipo IIB |
| pl | Zespół artrogrypozy, ograniczonych ruchów gałek ocznych i zaburzeń czynności elektrycznej siatkówki | Artrogrypoza dystalna typu 5 · Artrogrypoza dystalna typu IIB · Artrogrypoza dystalna z oftalmoplagią |
| cs | Distální artrogrypóza s oftalmoplegií | Distální artrogrypóza, typ 5 · Distální artrogrypóza, typ IIB · Artrogrypóza s okulomotorickým omezením a elektroretinálními anomáliemi · Okulomelická amyoplázie |
| uk | Синдром артрогрипозу - окуломоторних обмежень - електроретинальних аномалій | Дистальний артрогрипоз, тип 5 · Дистальний артрогрипоз типу IIB · Дистальний артрогрипоз з офтальмоплегією · Окуломелічна аміоплазія |
| zh | 关节挛缩-眼球运动受限-电传导异常综合征 | 远端关节弯曲伴眼肌麻痹 |
| tr | Artrogripozis-okülomotor kısıtlılık-elektroretinal anomaliler sendromu | Okülomelik amiyoplazi · Distal artrogripozis tip 5 · Distal artrogripozis tip IIB · Oftalmopleji ile seyreden distal artrogripozis |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 108145 | E | validated | |
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| ICD-11 | LD26.4Y | NTBT | index | validated |
| MONDO | 0007158 | E | validated | |
| MeSH | C537737 | E | validated | |
| UMLS | C1862472 | E | validated | |
| GARD | 4047 | 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:97120Distal arthrogryposis
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PIEZO2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:26270 | ENSG00000154864 | 613629 | 18p11.22-p11.21 | piezo type mechanosensitive ion channel component 2 | 23487782[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | 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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010751 | Chin dimple | |
| HP:0000490 | Deeply set eye | |
| HP:0001387 | Joint stiffness | |
| HP:0000602 | Ophthalmoplegia | |
| HP:0000767 | Pectus excavatum | |
| HP:0000508 | Ptosis | |
| Frequent (79-30%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0010489 | Absent palmar crease | |
| HP:0001166 | Arachnodactyly | |
| HP:0001776 | Bilateral talipes equinovarus | |
| HP:0005879 | Congenital finger flexion contractures | |
| HP:0004097 | Deviation of finger | |
| HP:0000023 | Inguinal hernia | |
| HP:0000400 | Macrotia | |
| HP:0000648 | Optic atrophy | |
| HP:0000325 | Triangular face | |
| HP:0000505 | Visual impairment | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1154
- This record as JSON: /data/d/1154.json