Bamforth–Lazarus syndrome explained

Bamforth–Lazarus syndrome
Synonyms:	Athyroidal hypothyroidism-spiky hair-cleft palate syndrome

Bamforth–Lazarus syndrome is a genetic condition that results in thyroid dysgenesis.^{[1] [2]} It is due to recessive mutations in forkhead/winged-helix domain transcription factor (FKLH15 or TTF2).^[3] It is associated with FOXE1.^[4]

Notes and References

1. Bamforth JS, Hughes I, Lazarus J, John R . Congenital anomalies associated with hypothyroidism . Arch. Dis. Child. . 61 . 6 . 608–9 . June 1986 . 3729532 . 1777822 . 10.1136/adc.61.6.608.
2. Bamforth JS, Hughes IA, Lazarus JH, Weaver CM, Harper PS . Congenital hypothyroidism, spiky hair, and cleft palate . J. Med. Genet. . 26 . 1 . 49–51 . January 1989 . 2918525 . 1015536 . 10.1136/jmg.26.1.49.
3. Kopp P . Perspective: genetic defects in the etiology of congenital hypothyroidism . Endocrinology . 143 . 6 . 2019–24 . June 2002 . 12021164 . 10.1210/endo.143.6.8864. free .
4. Venza I, Visalli M, Parrillo L, De Felice M, Teti D, Venza M . MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1 . Hum. Mol. Genet. . 20 . 5 . 1016–25 . March 2011 . 21177256 . 10.1093/hmg/ddq547 . free .