What is skeletal dysplasia?
Skeletal dysplasia is a group of genetic disorders characterized by abnormal bone development, further affecting skeletal growth and development. The group consists of more than 350 diseases, with various degrees of severity, comprising an array of disorders, including different types of short stature and dwarfism. Bone diseases are often accompanied by a wide range of disorders, either orthopaedic, such as joint dislocation, scoliosis, limb deformity and limb length inequality, bone fragility (osteogenesis imperfecta) or secondary fractures caused by a decrease in bone density, osteoporosis, rickets, etc.Some of these diseases are often accompanied by additional problems, such as hearing or sight impairments, hormonal, cardiologic or renal problems, or disorders of the digestive tract. At times, the affliction impacts neurological, respiratory or psychological functioning and can cause various degrees of developmental problems.
Although skeletal dysplasia diseases are rare (orphan diseases) their overall incidence is approximatively 2.4 per 10,000 births. The prenatal prevalence is even higher and is estimated at 7.5 per 10,000 ultrasonography scans. Mortality rate ranges from 0.95 to 1.5 per 10,000 births. Skeletal dysplasia represents about 5% of the genetic disorders identified in children. In Israel, 40-50 new cases occur yearly.
What are the advantages of having a multidisciplinary center team diagnose and treat skeletal dysplasia?
Skeletal dysplasia diagnosis is determined by clinical and molecular genetics criteria, as well as radiographic and other imaging methods. Today, the genetic background of most of these diseases is known, which facilitates accurate diagnosis, while in some cases, the diagnosis is even made prenatally.
The multidisciplinary center brings together specialists from a variety of fields such as bone health, genetics, radiology and neuroradiology, neurology, neurosurgery and pediatrics, covering different disciplines (such as specialists in diagnosis and treatment of metabolic diseases, endocrinology, pulmonology, cardiology, ophthalmology, dermatology, nephrology, otorhinolaryngology, nutrition, etc.), social work, psychology, occupational therapy, speech therapy and physiotherapy. In addition to its diagnostic and treatment experts, the center is endowed with specialists in areas such as pediatric surgery, urology, anesthesiology, acute/chronic pain management, and intensive care.
Diagnosis and treatment is provided using a case management approach, which is tailored to the specific requirements of the each child’s particular disease. The appointed staff designs an annual or semi-annual treatment and follow-up plan for the patient and families, as well as a complication surveillance scheme.
The multidisciplinary center receives patients with:
1. Suspicion of skeletal dysplasia
2. Suspicion of orthopaedic syndrome
3. Suspicion of metabolic bone disease
4. Short stature of unknown origin (following endocrine and gastroenterological investigation)
5. Orthopaedic problems associated with genetic syndromes (fibrous dysplasia, connective tissue diseases, Marfan syndrome and Ehlers-Danlos syndrome)
A child diagnosed as suffering from one of these disorders can be treated within the community health services according to the plan designed for him/her at the center. The child's physician or the family practitioner receives detailed information and a treatment and follow-up plan updated and adapted according to the child’s progress. The center’s team of specialists is available for consultation, and a permanent dialogue is established between the center and the community medical team.