A. According to the National Institute of Arthritis and Musculoskeletal and Skin Diseases, 'Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin, and lungs.'
In addition to being very tall, slender, and loose jointed, the the long bones of children with Marfan syndrome, such as their arms, legs, fingers, and toes, may be disproportionately long in relation to the rest of the body. Other skeletal problems can include scoliosis, breastbone problems, and affected children may have a long, narrow face, and a high-arched palate.
Also, more than half of all people with Marfan syndrome experience dislocation of one or both lenses of the eye, which is the symptom you have encountered. Children with Marfan syndrome can also have abnormalities of their heart and blood vessels, nervous system, skin, and lungs.
Unfortunately, there is no specific laboratory test, such as a blood test or skin biopsy, to diagnose Marfan syndrome. In addition to a general physical exam and eye exam, doctors usually perform an echocardiogram in evaluating children who may have Marfan syndrome.
Because a number of body systems may be affected, a person with Marfan syndrome should be cared for by several different types of doctors. A general practitioner or pediatrician may oversee routine health care and refer the patient to specialists such as a cardiologist (a doctor who specializes in heart disorders), an orthopedist (a doctor who specializes in bones), or an ophthalmologist (a doctor who specializes in eye disorders) as needed. Some people with Marfan syndrome are also treated by a geneticist.
According to the National Marfan Foundation, there are also specialized Marfan syndrome clinics where you could take your child for an evaluation. You can call them or register online to get a Clinic Directory to find such a clinic near you.
If there is no clinic near you, a Pediatric Cardiologist associated with a major Children's Hospital would also usually be a good place to go for an evaluation for Marfan syndrome.
You might also Ask a Question to contact the Information Resource Center of the National Marfan Foundation to help you find a doctor near you to see your child.