Bamforth Syndrome

Overview

Type of disease: Rare conditions

Bamforth syndrome is a rare disorder caused by congenital hypothyroidism. The thyroid is a small gland in the neck that produces hormones (chemicals that control certain body functions or development). Newborn babies with this condition have low hormone levels in their thyroid, which is due to having a lower amount of thyroid tissue. All babies born with this condition have spiky hair and a cleft palate (a hole in the roof of the mouth to the nose). Other common symptoms include choana astresia (a narrow nose airway making it harder to breath), bifid epiglottis (a problem with cartilage in your throat that often leads to airway obstruction), and intellectual disability. This condition may also cause malformations of the feet, hands or face.

Bamforth syndrome is a genetic condition caused by a change in the FOXE1 gene. Each person has two copies of every gene, one from mom and one from dad. Bamforth syndrome is passed down from parent to child in an autosomal recessive manner, which means one mutation from each parent is needed to cause symptoms. A person with only one mutation is called a carrier because they “carry” one changed copy and one unchanged copy of the gene. Carriers also show no signs or symptoms of the condition. If both parents are carriers, each of their children has a one in four chance (25%) of having the condition and a 50/50 chance of being a carrier.

Diagnosis is found normally by physical examination, thyroid ultrasonography, genetic testing, and by measuring the levels of hormones in the body through a blood test. Treatment usually includes thyroid hormone replacement therapy and surgery. Most children with this condition can have normal physical and pubertal development if appropriate treatment is given. If you or a family member has been diagnosed with Bamforth syndrome, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.

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