Kuskokwim syndrome
Synonyms: Arthrogryposis-like syndrome · Kuskokwim disease
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Neonatal
- Status
- active
A very rare congenital contracture disorder, reported exclusively in Yup'ik Eskimos of the Kuskokwim River delta region of Alaska, characterized by multiple contractures of large joints (predominantly the knees and ankles) that present at birth or during childhood but are lifelong; deformities of the spine, pelvis and feet; and sometimes proximally or distally displaced patellae and muscle atrophy in the limbs with contractures. Additional radiological features include mild vertebral wedging, elongation of the vertebral pedicle, and clubbing of the distal clavicle. An autosomal recessive pattern of inheritance has been suggested.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kuskokwim syndrome | Arthrogryposis-like syndrome · Kuskokwim disease |
| fr | Syndrome de Kuskokwim | Maladie de Kuskokwim · Syndrome arthrogrypose-like |
| de | Kuskokwim-Syndrom | Arthrogrypose-artiges Syndrom · Kuskokwim-Krankheit |
| es | Síndrome de Kuskokwim | Síndrome similar a artrogriposis |
| it | Sindrome artrogriposi-simile | Malattia di Kuskokwim |
| nl | Syndroom van Kuskokwim | Artrogrypose-achtig syndroom · Ziekte van Kuskokwim |
| pt | Síndrome Kuskokwim | Doença artrogripose-like |
| pl | Zespół Kuskokwim | Choroba Kuskokwim |
| cs | Arthrogryposis-like syndrom | Kuskokwimská nemoc |
| uk | Синдром Кускоквима | Артрогрипозний синдром · Хвороба Кускоквим |
| zh | Kuskokwim综合征 | 关节挛缩样综合征 |
| tr | Kuskokwim sendromu | Kuskokwim hastalığı · Artrogripozis benzeri sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 259450 | NTBT | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0015241 | E | validated | |
| MeSH | C538124 | E | validated | |
| UMLS | C1859709 | E | validated | |
| GARD | 3150 | 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 (1):
- ORPHA:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FKBP10 | Disease-causing germline mutation(s) in | Assessed | HGNC:18169 | ENSG00000141756 | 607063 | 17q21.2 | FKBP prolyl isomerase 10 | 23712425[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23712425[PMID] |
| Cases/families | 8 families | Worldwide | Family(ies) | Validated | 23712425[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
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006498 | Aplasia/Hypoplasia of the patella | |
| HP:0001288 | Gait disturbance | |
| HP:0001387 | Joint stiffness | |
| Frequent (79-30%) | ||
| HP:0001883 | Talipes | |
| Occasional (29-5%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000889 | Abnormality of the clavicle | |
| HP:0006501 | Aplasia/Hypoplasia of the radius | |
| HP:0000995 | Melanocytic nevus | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0002650 | Scoliosis | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1149
- This record as JSON: /data/d/1149.json