ORPHA:65743
Autosomal dominant multiple pterygium syndrome
Synonyms: Distal arthrogryposis type 8
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare distal arthrogryposis syndrome characterized by multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant multiple pterygium syndrome | Distal arthrogryposis type 8 |
| fr | Syndrome des ptérygiums multiples autosomique dominant | Arthrogrypose distale type 8 |
| de | Multiples Pterygium-Syndrom, autosomal-dominantes | Arthrogrypose, distale, Typ 8 |
| es | Síndrome de pterigium múltiple autosómico dominante | |
| it | Sindrome da pterigi multipli autosomica dominante | Artrogriposi distale, tipo 8 |
| nl | Autosomaal dominant meervoudig pterygium-syndroom | Distale artrogrypose type 8 |
| pt | Síndrome de pterígio múltiplo autossómica dominante | Artrogripose distal tipo 8 |
| pl | Autosomalny dominujący zespół mnogich płetwistości | Artrogrypoza dystalna typu 8 |
| cs | Autozomálně dominantní syndrom mnohočetných pterygií | Distální artrogrypóza, typ 8 |
| uk | Аутосомно-домінантний синдром множинних птеригіумів | Дистальний артрогрипоз, тип 8 |
| zh | 常染色体显性多发性翼状胬肉综合征 | 远端关节挛缩8型 |
| tr | Otozomal dominant çoklu piterjiyum sendromu | Distal artrogripozis tip 8 |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 178110 | E | validated | |
| ICD-10 | Q79.8 | NTBT | attributed | validated |
| ICD-11 | LD26.40 | NTBT | index | validated |
| MONDO | 0008338 | E | validated | |
| MeSH | C566739 | E | validated | |
| UMLS | C1867440 | 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:97120Distal arthrogryposis
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:294060Multiple pterygium syndrome
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 |
|---|---|---|---|---|---|---|---|---|
| MYH3 | Disease-causing germline mutation(s) in | Assessed | HGNC:7573 | ENSG00000109063 | 160720 | 17p13.1 | myosin heavy chain 3 | 25957469[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 2831369[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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/65743
- This record as JSON: /data/d/65743.json