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Bamforth-Lazarus syndrome
rareBamforth-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.
- Identifiers
- MONDO:0009437 OMIM:241850Orphanet:1226
- Causal genes
- FOXE1
- Also known as
- Athyroidal hypothyroidism-spiky hair-cleft palate syndrome · Bamforth syndrome · hypothyroidism cleft palate hypothyroidism, athyroidal, with spiky hair and cleft palate · hypothyroidism-cleft palate syndrome
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