Medical Q&As

Johanson-Blizzard Syndrome - describe?

My 7-month-old daughter has been diagnosed with Johanson Blizzard syndrome. What are the complications, and are there any relevant support groups for my wife and I?

Johanson-Blizzard Syndrome is an extremely rare inherited disorder that is transmitted through an autosomal recessive form of inheritance. This means that both parents carry the gene and there is a one in four chance of recurrence of the condition in subsequent pregnancies. The range and severity of symptoms varies greatly from case to case. Affected children tend to have an unusually small nose that appears beak shaped due to absence or underdevelopment of the nostrils. The primary and secondary teeth can be abnormal and some children have very coarse and sparse scalp hair. Some affected infants have a low birth weight and may fail to thrive giving rise to short stature. Approximately one third of infants with Johanson-Blizzard Syndrome also demonstrate underproduction of thyroid hormones leading to generalized weakness, which may also contribute to growth retardation as well as abnormal delays in the acquisition of skills requiring the coordination of mental and physical activity. Affected infants may also exhibit hearing impairment due to abnormalities of the inner ear and may experience associated speech impairment. In addition, approximately 60 % of affected children may have moderate mental retardation; however, others may have normal intelligence. Additional abnormalities may also be present. It is important to stress that the information I have given describes a range of possibilities some of which may not apply to your baby girl. Each case is unique and no two cases will share the exact same abnormalities. It is possible for a child to be affected in a mild form. I have conducted a trawl for possible support groups for this condition and regret that I have not been able to locate any.