Bamforth Syndrome is a rare disorder associated with mutations in the FOXE1 gene.


Gene: FOXE1 (forkhead box E1, also termed thyroid transcription factor 2 or TTF2)

Chromosome: 9q22



(1) familial: autosomal recessive, usually consanguinity of heterozygous carriers

(2) sporadic


Clinical features of Bamforth Syndrome:

(1) congenital hypothyroidism associated with thyroid dysgenesis/agenesis or ectopic thyoid

(2) cleft palate

(3) spiky or curly hair

(4) variable choanal atresia

(5) variable bifid epiglottis


Additional finding may include:

(1) low set ears with prominent antihelix and flat upper helix

(2) retrognathia or micrognathia


Normal features:

(1) sweating

(2) facial appearance (no dysmorphism)


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