Table 3.
Syndromic conditions associated to congenital hypothyroidism and correlated genes.
| Type of CH | Syndrome | Gene |
|---|---|---|
| Thyroid Dysgenesis | Brain-Lung-Thyroid syndrome | Nkx2.1 (Ttf-1) |
| Di George syndrome | TBX1 | |
| Bamforth-Lazaryus syndrome | FOXE1 | |
| Williams-Beuren syndrome | ELN, BAZ1B | |
| Kabuki syndrome | KMT2D, KDM6A | |
| Down syndrome | DYRK1A | |
| Townes-Brocks syndrome | SALL1 | |
| Johanson-Blizzard syndrome | URB1 | |
| Ohdo syndrome | KAT6B | |
| Takenouchi-Kosaki syndrome | CDC42 | |
| Blepharo-cheilo-dontic syndrome | CDH1, CTNND1 | |
| Dyshormonogenesis | Pendred syndrome | SLC26A4/PDS |
| Pseudohypoparathyroidism | GNAS |