Health Condition 1: M049- Autoinflammatory syndrome, unspecified Health Condition 2: M162- Bilateral osteoarthritis resultingfrom hip dysplasia Health Condition 3: M170- Bilateral primary osteoarthritis of knee Health Condition 4: M859- Disorder of bone density and structure, unspecified Health Condition 5: M259- Joint disorder, unspecified Health Condition 6: M082- Juvenile rheumatoid arthritis withsystemic onset Health Condition 7: M169- Osteoarthritis of hip, unspecified Health Condition 8: M
Conditions
Interventions
None listed
Sponsors
Kasturba Medical College Manipal
Eligibility
Inclusion criteria
Inclusion criteria: Subjects with clinical and radiological features suggestive of a skeletal dysplasia undergoing next generation sequencing, which would include: i. Skeletal dysplasia without a definitive clinical diagnosis. ii. Genetically heterogenous skeletal dysplasia. iii. Skeletal dysplasia with relatively large target region in the genome.
Exclusion criteria
Exclusion criteria: Subjects with a skeletal dysplasia diagnosed by targeted genetic testing
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1. Genomic profiling of Indian patients with skeletal dysplasia. 2. Definition and expansion of skeletal dysplasia genes and phenotypes.Timepoint: 3 years | — |
Secondary
| Measure | Time frame |
|---|---|
| Identifying the molecular diagnosis of a skeletal dysplasia helps in carrier testing and offering accurate genetic counselling to the affected family. Timepoint: 3 years | — |
Countries
India
Contacts
Public ContactPrince Jacob
Kasturba Medical College, Manipal
Outcome results
None listed