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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 nameKnown genes
Autosomal Dominant Larsen Syndrome, Recessive spondylocarpotarsal syndromeFLNB
Barth SyndromeTAZ
Bruck SyndromePLOD2, FKBP10
Carey-Fineman-Ziter SyndromeMYMK
Catel-Manzke SyndromeTGDS
Charcot-Marie-Tooth Disease Type 4DNDRG1
Diastrophic dysplasiaSLC26A2
Ehlers-Danlos Syndrome, Musculocontractural type 1CHST14
Ehlers-Danlos Syndrome, Musculocontractural type 2DSE
Ehlers-Danlos Syndrome, vascular typeCOL3A1
Epileptic EncephalopathyAARS
Joubert SyndromeATXN10, TCTN2
Loeys-Dietz SyndromeTGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3
Marfan SyndromeFBN1, TGFBR, TGFBR1, TGFBR2, SMAD3, TGFB2, SKI
Moebius SyndromePLXND1, REV3L
Multiple Epiphyseal DysplasiaCOL9A1, COL9A2, COL9A3, COMP, MATN3, SLC26A2
Multiple Synostosis SyndromeGDF5
Peroxisome biogenesis disorder 7APEX26
Recessive axonal Charcot-Marie-Tooth DiseaseLMNA, GDAP1
Recessive Larsen Syndrome, Humero-Spinal Dysostosis, Spondyloepiphyseal dysplasiaCHST3
Richieri-Costa – Pereira SyndromeEIF4A3
Santos SyndromeWNT7A
Saul-Wilson SyndromeCOG4
Schpritzen-Goldberg SyndromeSKI
TARP SyndromeRBM20
Van Maldergem Syndrome 2DCHS1, FAT4