Synonyms: Athyroidal hypothyroidism-spiky hair-cleft palate syndrome | Bamforth syndrome | Hypothyroidism-cleft palate syndrome
A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis) cleft palate and spiky hair with or without choanal atresia and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
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