| Erkrankung | Gen(e) |
|---|
| Achondroplasie / Hypochondroplasie | FGFR3 COMP |
| Alagille-Syndrom | JAG1 NOTCH2 |
| Beckwith-Wiedemann-Syndrom | NSD1 H19 KCNQ1OT1 CDKN1C |
| Brachydaktylie | TP63 HOXD13 IHH GDF5 BMPR1B BMP2 GDF5 ROR2 NOG HOXD13 HOXD13 PTHLH TBX15 CHSY1 |
| Bruck Syndrom | FKBP10 PLOD2 |
| Campomele Dysplasie | SOX9 |
| Cherubismus | SH3BP2 |
| Chondrodysplasia punctata | AGPS ARSE EBP GNPAT PEX7 |
| Cockayne Syndrom | ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 |
| Currarino Syndrom | VANGL1 MNX1 |
| Diastrophische Dysplasie | SLC26A2 |
| Duane-Ray Radial Syndrom | SALL4 |
| Dysplasie epiphysäre | COL2A1 COL9A1 COL9A2 COL9A3 COMP MATN3 SLC26A2 |
| Ehlers-Danlos Syndrom | COL5A1 COL5A2 COL1A1 COL5A1 COL3A1 COL3A1 PLOD1 COL1A1 COL1A2 ADAMTS2 CHST14 DSE FKBP14 SLC39A13 B3GALT6 B4GALT7 TNXB |
| FGFR2-assoziierte Erkrankungen | FGFR2 |
| FGFR3-assoziierte Erkrankungen | FGFR3 |
| Fuhrmann Syndrom / Schinzel Phocomelia Syndrom | WNT7A |
| Holoprosenzephalie | DEL1q41q42 SIX3 SHH TGIF ZIC2 PTCH1 GLI2 CDON |
| Holt-Oram Syndrom | TBX5 |
| Jeune Syndrom | IFT80 DYNC2H1 WDR19 TTC21B |
| Kallmann Syndrom | KAL1 FGFR1 PROKR2 PROK2 CHD7 FGF8 GNRHR KISS1R NSMF TAC3 TACR3 GNRH1 KISS1 WDR11 HS6ST1 SEMA3A SPRY4 IL17RD DUSP6 FGF17 FLRT3 |
| Kraniosynostose | ERF FGFR1 FGFR2 FGFR3 IL11RA MSX2 TCF12 TWIST1 |
| Laron Syndrom | GHR STAT5B |
| Larsen Syndrom | FLNB B3GAT3 CHST3 |
| Leri-Weill Dyschondrosteose | SHOX SHOXY |
| Loeys-Dietz Syndrom | TGFBR1 TGFBR2 SMAD3 TGFB2 FBN1 |
| Marfan Syndrom | FBN1 |
| Miller Syndrom | DHODH |
| Minderwuchs proportional | FGD1 NIPBL KMT2D KDM6A PTPN11 KRAS SOS1 RAF1 CREBBP EP300 SHOX SHOXY DHCR7 |
| Mulibrey Zwergwuchs | TRIM37 |
| Multiples Pterygium Syndrom | CHRNG CHRNA1 CHRND |
| Osteogenesis imperfecta | PLS3 PLOD2 COL1A1 COL1A2 PPIB IFITM5 SERPINF1 CRTAP LEPRE1 SERPINH1 FKBP10 SP7 BMP1 TMEM38B WNT1 |
| Rachitis/ Hypophosphatesia | ALPL SLC34A3 DMP1 FGF23 ENPP1 PHEX CYP27B1 VDR |
| Robinow Syndrom | WNT5A ROR2 |
| Silver-Russell Syndrom | 11p15 |
| Sotos Syndrom | NSD1 NFIX EZH2 |
| Spina bifida Neuralrohrdefekt | VANGL1 VANGL2 FUZ |
| Stickler Syndrom | COL2A1 COL2A1 COL11A1 COL11A2 COL9A1 COL9A2 |
| Stüve-Wiedemann Syndrom | HSPG2 LIFR |
| Thanatophore Dysplasie | FGFR3 |
| Trichorhinophalangeales Syndrom | TRPS1 8q24.1 |
| Ulna-Mamma Syndrom | TBX3 |
| Wachstumshormon-Mangel | BTK GHRHR GH1 |