Burnett Syndrome
Description
Burnett syndrome, also known as ‘Burnett‘s syndrome‘ or ‘Burnett-type craniosynostosis‘, is a rare genetic disorder affecting bone development, resulting in characteristic facial features and skeletal abnormalities. Individuals with Burnett syndrome often experience developmental delays. This comprehensive guide delves into the intricacies of this condition, exploring its symptoms, causes, diagnosis, management, and strategies for thriving.
Genes Involved
Genes Involved in Burnett Syndrome:
- FGFR2 gene: Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene are the primary cause of Burnett syndrome. This gene plays a critical role in bone development and growth.
Recognizing the Signs and Symptoms
Recognizing the Signs and Symptoms of Burnett Syndrome:
- Distinctive facial features: A prominent forehead, widely spaced eyes (hypertelorism), a flat nasal bridge, and a small chin are common characteristics.
- Skeletal abnormalities: These can include craniosynostosis (premature fusion of skull bones), delayed closure of the fontanels (soft spots on the skull), and abnormalities of the hands and feet.
- Developmental delays: Individuals with Burnett syndrome may experience delays in speech, language, and motor skills development.
- Other potential symptoms: Seizures, hearing loss, and vision problems can also occur.
Causes
Causes of Burnett Syndrome:
- Genetic mutations: Burnett syndrome is caused by mutations in the FGFR2 gene. These mutations disrupt the normal function of the gene, leading to abnormal bone development.
- Inheritance: The inheritance pattern is usually autosomal dominant, meaning a single copy of the mutated gene from either parent is sufficient to cause the syndrome.
Inheritance/recurrence risk
Inheritance or Recurrence Risk:
- Autosomal dominant inheritance: Individuals with Burnett syndrome have a 50% chance of passing the mutated gene to their children.
- New mutations: In some cases, the mutation may occur spontaneously, meaning neither parent carries the gene. The risk of recurrence in subsequent pregnancies is low in these cases.
