Table 1 from B. Sadler, C. A. Gurnett, and M. B. Dobbs “The genetics of isolated and syndromic clubfoot”, Journal of Children Orthopaedics Jun 2019
From: What a paediatrician should know about congenital clubfoot
Condition/syndrome name | Known genes |
|---|---|
Autosomal Dominant Larsen Syndrome, Recessive spondylocarpotarsal syndrome | FLNB |
Barth Syndrome | TAZ |
Bruck Syndrome | PLOD2, FKBP10 |
Carey-Fineman-Ziter Syndrome | MYMK |
Catel-Manzke Syndrome | TGDS |
Charcot-Marie-Tooth Disease Type 4D | NDRG1 |
Diastrophic dysplasia | SLC26A2 |
Ehlers-Danlos Syndrome, Musculocontractural type 1 | CHST14 |
Ehlers-Danlos Syndrome, Musculocontractural type 2 | DSE |
Ehlers-Danlos Syndrome, vascular type | COL3A1 |
Epileptic Encephalopathy | AARS |
Joubert Syndrome | ATXN10, TCTN2 |
Loeys-Dietz Syndrome | TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3 |
Marfan Syndrome | FBN1, TGFBR, TGFBR1, TGFBR2, SMAD3, TGFB2, SKI |
Moebius Syndrome | PLXND1, REV3L |
Multiple Epiphyseal Dysplasia | COL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2 |
Multiple Synostosis Syndrome | GDF5 |
Peroxisome biogenesis disorder 7A | PEX26 |
Recessive axonal Charcot-Marie-Tooth Disease | LMNA, GDAP1 |
Recessive Larsen Syndrome, Humero-Spinal Dysostosis, Spondyloepiphyseal dysplasia | CHST3 |
Richieri-Costa – Pereira Syndrome | EIF4A3 |
Santos Syndrome | WNT7A |
Saul-Wilson Syndrome | COG4 |
Schpritzen-Goldberg Syndrome | SKI |
TARP Syndrome | RBM20 |
Van Maldergem Syndrome 2 | DCHS1, FAT4 |