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Extremely rare congenital genetic disorder combining cleft palate and hypothyroidism.

Bamforth Syndrome; Congenital Hypothyroidism, Spiky Hair, and Cleft Palate Syndrome.

Only five children have been described. Autosomal recessive inheritance. The genetic defect affects the gene encoding thyroid transcription factor-2, which is, among other factors such as thyroid transcription factor-1, thyroid-stimulating hormone receptor genes, and Pax-8, implicated in the early thyroid organogenesis. The hair defect seems to be caused by a mutation in the FOXE 1 gene. Gene map locus is 9q22.

Three children, two siblings and one single child, showed neonatal respiratory distress, presumably from upper airway obstruction. Facial features included choanal atresia, cleft palate, bifid epiglottis, and micrognathia. Congenital hypothyroidism and spiky hair were present at birth. Mild developmental delay was described in two and might have been related to hypothyroidism. Thyroid agenesis is possible. Other features included polyhydramnios in three cases and low-set ears.

Direct laryngoscopy and tracheal intubation may be difficult because of micrognathia and malformations of the palate and epiglottis. However, at least one child was mechanically ventilated, and no difficulties with intubation were reported. Choanal atresia precludes nasal intubation and respiratory distress can be marked in the neonatal period and require surgical treatment. Two children had recurrent aspirations and poor feeding, possibly because of pharyngeal dysmotility. Chronic lung disease may be present secondary to chronic aspirations and mechanical ventilation. These patients are on thyroid hormone replacement therapy. Despite adequate therapy, these patients are usually of short stature.

Bamforth JS, Hughes IA, Lazarus JH, et al: Congenital hypothyroidism, spiky hair, and cleft palate. J Med Genet 26:49, 1989.  [PubMed: 2918525]
Brancaccio A, Minichiello A, Grachtchouk M, et al. Requirement of the forkhead gene FOXE 1, a target of sonic hedgehog signaling, in hair follicle morphogenesis. Hum Mol Genet 13;2595, 2004.
Buntinex IM, Van Overmeire B, Desager K, et al: Syndromic association of cleft palate, bilateral choanal atresia, curly hair, and congenital hypothyroidism. J Med Genet 30:427, 1993.

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