Rare hereditary diseases
Conditions
Interventions
Case series:Nil
Sponsors
Shandong Provincial Hospital
Eligibility
Sex/Gender
All
Age
1 Years to 80 Years
Inclusion criteria
Inclusion criteria: 1. Patients with the definite diagnosis of rare hereditary diseases confirmed by genetic screening; 2. Signing the informed consent form in person by the patients or his family members, indicating that the patients has been informed of all the relevant research contents; 3. Patients and their families are willing and able to cooperate with research-related medical history collection, full examination, intervention treatment and other research procedures; 4. Patients or parents can clearly describe their fracture history and development history, and parents can clearly describe the physical condition during pregnancy and answer truthfully.
Exclusion criteria
Exclusion criteria: (1) Diseases caused by non-hereditary factors, such as nutritional deficiency and drugs, were identified by clinical and genetic screening; (2) Complicated with other serious diseases, such as malignant tumors; (3) Researchers believe that it is not appropriate for participants to participate in this study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| body composition;Ultrasound examination of liver;Ultrasonography of gonads;Sex hormone test; | — |
Countries
China
Contacts
Public ContactJiajun Zhao
Shandong Provincial Hospital
Outcome results
None listed