What is Genetic Counseling for Skeletal Disorders?

Genetic counseling for skeletal disorders involves diagnosing and understanding the genetic causes of conditions like osteogenesis imperfecta and skeletal dysplasia. It helps in managing these conditions, understanding their progression, and planning for future care.

Benefits of Genetic Counseling for Skeletal Disorders

Early diagnosis and tailored management can enhance the quality of life for individuals with skeletal disorders, providing targeted therapies and support.

Who Should Get Genetic Counseling for Skeletal Disorders?

Individuals with a family history of skeletal disorders or those experiencing unexplained bone issues like short bones of legs and/or arms, bowed or fractured bones, bones that may have different lengths, a small chest, abnormal ribs, duplication of fingers or toes and others should consider genetic counseling.

Genetic Testing for Skeletal Disorders

Genetic tests can identify mutations causing skeletal disorders, guiding diagnosis and treatment.

Example of Genetic conditions that can be Identified:

• Osteogenesis Imperfecta (OI)
•  Achondroplasia
•  Multiple Epiphyseal Dysplasia
•  Marfan Syndrome
•  Ehlers-Danlos Syndrome
•  Cleidocranial Dysplasia
•  Hypochondroplasia
•  Fibrodysplasia Ossificans Progressiva
•  Mucopolysaccharidosis
•  Pyle Disease