List of diseases covered by
Craniosynostosis NGS panel
| Gene | Condition |
| FGFR1 | Pfeiffer syndrome; Encephalocraniocutaneous lipomatosis; Hartsfield syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Osteoglophonic dysplasia; Trigonocephaly 1 |
| FGFR2 | Apert syndrome; Beare-Stevenson cutis gyrata syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Bent bone dysplasia syndrome; Craniofacial-skeletal-dermatologic dysplasia; Crouzon syndrome; Jackson-Weiss syndrome; LADD syndrome; Pfeiffer syndrome; Saethre-Chotzen syndrome; Scaphocephaly, maxillary retrusion, and mental retardation |
| FGFR3 | Achondroplasia; CATSHL syndrome; Crouzon syndrome with acanthosis nigricans; Hypochondroplasia; LADD syndrome; Muenke syndrome; SADDAN; Thanatophoric dysplasia, type I; Thanatophoric dysplasia, type II |
| IL11RA | Craniosynostosis and dental anomalies |
| MSX2 | Craniosynostosis 2; Parietal foramina 1; Parietal foramina with cleidocranial dysplasia |
| RECQL4 | Baller-Gerold syndrome; RAPADILINO syndrome; Rothmund-Thomson syndrome |
| TWIST1 | Craniosynostosis 1; Robinow-Sorauf syndrome; Saethre-Chotzen syndrome with or without eyelid anomalies; Sweeney-Cox syndrome |