Gene: FOXE1 (forkhead box E1, also termed thyroid transcription factor 2 or TTF2)
Chromosome: 9q22
Occurrence:
(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)
