Bamforth-Lazarus syndrome
Bamforth-Lazarus Syndrome Bamforth-Lazarus syndrome is a rare genetic disorder characterized by a combination of congenital hypothyroidism, choanal atresia, and spiky hair. This condition is caused by mutations in the FOXE1 gene, which plays a crucial role in the development of the thyroid gland and other structures during embryogenesis.
Clinical Features[edit | edit source]
Individuals with Bamforth-Lazarus syndrome typically present with the following clinical features:
- Congenital Hypothyroidism: This is a condition present at birth where the thyroid gland does not produce enough thyroid hormone. Symptoms may include jaundice, poor feeding, lethargy, and developmental delay.
- Choanal Atresia: A congenital blockage of the nasal passage due to abnormal bony or membranous tissue, leading to breathing difficulties, especially in newborns.
- Spiky Hair: A distinctive feature of this syndrome is the presence of coarse, spiky hair.
Genetic Basis[edit | edit source]
Bamforth-Lazarus syndrome is caused by mutations in the FOXE1 gene, which is located on chromosome 9q22. The FOXE1 gene encodes a transcription factor that is essential for the normal development of the thyroid gland, palate, and hair follicles.
Diagnosis[edit | edit source]
Diagnosis of Bamforth-Lazarus syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the FOXE1 gene. Newborn screening for congenital hypothyroidism can also aid in early detection.
Management[edit | edit source]
Management of Bamforth-Lazarus syndrome involves a multidisciplinary approach:
- Thyroid Hormone Replacement: Lifelong thyroid hormone replacement therapy is necessary to manage congenital hypothyroidism.
- Surgical Intervention: Surgery may be required to correct choanal atresia and improve breathing.
- Supportive Care: Regular follow-up with endocrinologists, otolaryngologists, and other specialists is important to monitor growth and development.
Prognosis[edit | edit source]
With appropriate treatment, individuals with Bamforth-Lazarus syndrome can lead relatively normal lives. Early diagnosis and intervention are crucial to prevent complications associated with hypothyroidism and choanal atresia.
See Also[edit | edit source]
NIH genetic and rare disease info[edit source]
Bamforth-Lazarus syndrome is a rare disease.
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