Bamforth–Lazarus syndrome

Bamforth–Lazarus syndrome
Other namesAthyroidal hypothyroidism-spiky hair-cleft palate syndrome, Bamforth syndrome
Illustration shows person with Bamforth-Lazarus syndrome, with extensive cleft palate, hypertelorism, spiky hair and low posterior hairline, and low set ears.
SpecialtyMedical genetics
SymptomsCongenital hypothyroidism, cleft palate, spiky hair, choanal atresia, bifid epiglottis
Usual onsetPresent at birth
CausesGenetic (autosomal recessive disorder, mutation in FOXE1 gene)
TreatmentThyroid hormone replacement therapy
PrognosisGood prognosis with treatment

Bamforth–Lazarus syndrome is a rare inherited genetic condition caused by rare variants in the forkhead domain of the FOXE1 gene, which encodes a protein involved in thyroid development. The prevalence of Bamforth–Lazarus syndrome is less than 1 in 1 000 000 people. It follows an autosomal recessive mode of inheritance pattern. The disorder is characterized by congenital hypothyroidism due to thyroid dysgenesis and other symptoms including, cleft palate, spiky or coarse hair, choanal atresia, and occasionally a bifid epiglottis.

Bamforth–Lazarus syndrome was first described in 1989 by the physicians J. S. Bamforth and J. H. Lazarus.

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