Discovering the Gene(s) Causing Developmental Dysplasia of the Hip (DDH)
Condition: Hip Dysplasia
MeSH terms: Hip Dislocation; Developmental Dysplasia of the Hip; Hip Dislocation, Congenital
Study type: Observational

Summary: 
      The primary objective of the study is to find the gene(s) responsible for causing DDH. The
      secondary objective of the study is to determine the mode of genetic transmission of DDH.
    

Detailed description: 
      Developmental dysplasia of the hip (DDH), formerly known as Congenital Dislocation of the Hip
      (CDH) is a relatively common disorder that can lead to early onset arthritis of the hip. It
      is believed that DDH is the major cause of arthritis of the hip in young patients. The
      majority of patients with DDH are unaware of their condition. Only a very small number of
      these patients with the extremely severe form of the disease (dislocated hip) are identified
      at birth. The remaining patients usually seek help when severe arthritis is present and joint
      preservation treatment is not possible. The exact etiology of this condition remains elusive.
      Based on reports in the literature, DDH is believed to have a genetic basis.

      Dr. Javad Parvizi at Rothman Institute (RT) in Philadelphia has extensive experience with
      this condition because their center provides joint preservation procedures such as pelvic and
      femoral osteotomy. They also have extensive experience with hip replacement in these
      patients. They are aware of some families with many affected individuals. Close history
      taking and examination of these patients has suggested that there may indeed be a genetic
      basis for DDH. Based on our findings so far, we believe that a dominant pattern of
      inheritance may exist, implying that this disorder may be inherited in a Mendelian manner
      (Single gene disorder).

      Furthermore, Dr. Parvizi's group have documented a peculiar pattern of dominant inheritance
      in which all affected males give rise to only affected female children, suggesting that the
      disorder may be inherited as an X-linked dominant trait. X-linked dominant is the mode of
      inheritance in which a gene on the X chromosome is dominant. The X-linked dominant
      inheritance may in part account for the large number of females affected with the trait.
      Understanding the inheritance mechanism of this disease will allow better genetic counseling
      and monitoring of affected individuals and their families.

      The reason behind this study is to investigate the possible genetic inheritance of the
      disease. Knowing this information will allow us to test patients for the disease early and
      before arthritis develops. In addition it is possible that better treatments may be designed
      based on this knowledge.

      DDH is a relatively common condition. Although the most severe form of DDH is usually
      diagnosed during birth (dislocated hip), the majority (>80%) of patients with this condition
      do not even know that they suffer from this disease and usually discover their condition when
      disabling arthritis of the hip develops in early adulthood.
    

Observational model: Case-Only
Time perspective: Cross-Sectional
Sampling method: Probability Sample
Study population: 
        Patients who have been diagnosed with hip dysplasia and their family members.
      
Biospecimen description: 
      DNA samples are kept