Bamforth-Lazarus syndrome
Bamforth-Lazarus syndrome
Definition
Bamforth-Lazarus syndrome is 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.
Also known as Athyroidal hypothyroidism-spiky hair-cleft palate syndrome, Bamforth syndrome, Bamforth-Lazarus syndrome, hypothyroidism-cleft palate syndrome — per MONDO