Bamforth-Lazarus syndrome

Definition:

Bamforth-Lazarus syndrome is congenital hypothyroidism associated with choanal atresia, bifid epiglottis, and abnormal hair. It has been suggested that mutations in FOXE1 are associated with Bamforth-Lazarus syndrome. FOXE1 is a member of the forkhead/winged-helix family and functions as a thyroid transcription factor which likely plays a crucial role in thyroid morphogenesis.

References:

[1]. J S Bamforth, et al. Congenital hypothyroidism, spiky hair, and cleft palate. J Med Genet. 1989 Jan;26(1):49-51. [Content Brief]

[2]. Mireille Castanet, et al. Spectrum of Human Foxe1/TTF2 Mutations. Horm Res Paediatr. 2010;73(6):423-9. [Content Brief]

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