Bamforth-Lazarus syndrome

Bamforth-Lazarus syndrome (also known as Bamforth syndrome or hypothyroidism-athelia-bifid tongue syndrome) is an extremely rare genetic disorder caused by mutations in the FOXE1 (also known as FKHL15 or TTF2) gene on chromosome 9q22. This condition is characterized by congenital hypothyroidism due to thyroid dysgenesis (absent or underdeveloped thyroid gland), cleft palate, bifid epiglottis, and choanal atresia. Additional hallmark features include athelia (absence of nipples) and spiky or coarse hair. The syndrome primarily affects the endocrine system (thyroid gland), craniofacial structures, and skin/hair. Affected infants typically present at birth or in the neonatal period with signs of severe hypothyroidism, feeding difficulties related to cleft palate, and respiratory problems that may be associated with choanal atresia (blockage of the nasal passages). The bifid tongue and bifid epiglottis are distinctive features that help distinguish this syndrome from other causes of congenital hypothyroidism. Some patients may also have developmental delay if hypothyroidism is not promptly treated. Treatment is primarily supportive and symptomatic. Thyroid hormone replacement therapy (levothyroxine) is essential and should be initiated as early as possible to prevent intellectual disability associated with untreated congenital hypothyroidism. Surgical interventions may be required for cleft palate repair and management of choanal atresia. Multidisciplinary care involving endocrinologists, surgeons, and speech therapists is typically necessary. The prognosis depends on the severity of associated malformations and the timeliness of thyroid hormone replacement.

Common questions about Bamforth-Lazarus syndrome