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Skeletal Disorders Clinic Opens

A new clinic for the diagnosis and treatment of children with suspected skeletal development disorders has opened at Schneider Children’s
Date: 16.07.17 | Update: 06.08.17

The clinic will diagnose and treat children with suspected disorders of bone development (skeletal dysplasia), which results from genetic mutations and characterized by abnormal bone growth. The clinic will work closely with senior geneticist Dr. Lior Cohen, and senior endocrinologist Dr. Rachel Blau.

Skeletal Dysplasia encompasses a group of over 400 disorders connected with the abnormal development of bone and cartilage. Symptoms of suspected skeletal dysplasia include low stature (dwarfism), disproportionate body shape such as short thighs relative to the trunk or short torso relative to the body, distortion of or misshapen long bones, stiff joints, and decreased or increased bone mass. It should be noted that this group of disorders does not relate to conditions of short height, rather only those where the skeletal structure or shape has been affected.

Clinical assessment includes a review of the family’s medical history, a physical examination, and referral for specific genetic testing as well as other tests. Early diagnosis could minimize future complications and significantly improve the child’s quality of life. Also, pre-natal or sequential guidance can be offered to the family once molecular evaluation has been done

The multidisciplinary clinic will comprise specialists in genetics, imaging, orthopedics, endocrinology, and psychology together with nursing and para-medical professionals, and will work in cooperation with the European Skeletal Dysplasia Network (ESDN).

For further enquiries, contact the Genetics Clinic at 972-3-9253526 or Referrals can be faxed to 972-3-9253913.

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