Bamforth–Lazarus syndrome

{{Infobox medical condition (new)

| name = Bamforth–Lazarus syndrome

| synonyms = Athyroidal hypothyroidism-spiky hair-cleft palate syndrome

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Bamforth–Lazarus syndrome is a genetic condition that results in thyroid dysgenesis.{{cite journal |vauthors=Bamforth JS, Hughes I, Lazarus J, John R |title=Congenital anomalies associated with hypothyroidism |journal=Arch. Dis. Child. |volume=61 |issue=6 |pages=608–9 |date=June 1986 |pmid=3729532 |pmc=1777822 |doi= 10.1136/adc.61.6.608}}{{cite journal |vauthors=Bamforth JS, Hughes IA, Lazarus JH, Weaver CM, Harper PS |title=Congenital hypothyroidism, spiky hair, and cleft palate |journal=J. Med. Genet. |volume=26 |issue=1 |pages=49–51 |date=January 1989 |pmid=2918525 |pmc=1015536 |doi= 10.1136/jmg.26.1.49}} It is due to recessive mutations in forkhead/winged-helix domain transcription factor (FKLH15 or TTF2).{{cite journal |author=Kopp P |title=Perspective: genetic defects in the etiology of congenital hypothyroidism |journal=Endocrinology |volume=143 |issue=6 |pages=2019–24 |date=June 2002 |pmid=12021164 |doi= 10.1210/endo.143.6.8864|doi-access=free }} It is associated with FOXE1.{{cite journal |vauthors=Venza I, Visalli M, Parrillo L, De Felice M, Teti D, Venza M |title=MSX1 and TGF-beta3 are novel target genes functionally regulated by FOXE1 |journal=Hum. Mol. Genet. |volume=20 |issue=5 |pages=1016–25 |date=March 2011 |pmid=21177256 |doi=10.1093/hmg/ddq547 |doi-access=free }}