Table 3.
Selected skeletal dysplasias/dysostoses
| Selected skeletal dysplasias/dysostoses | Gene | Technique | Inheritance |
|---|---|---|---|
| Achondroplasia | FGFR3 | TM | AD |
| Albright hereditary osteodystrophy | GNAS | S | AD |
| Cartilage hair hypoplasia | RMRP | S | AR |
| Chondrodysplasia punctata | |||
| X-linked recessive | ARSE | A, S, Dup, Del | XLR |
| Rhizomelic, type 1 | PEX7 | A | AR |
| Rhizomelic, type 2 | GNPAT, AGPS | A, E | AR |
| X-linked dominant, Conradi-Hunermann | EBP | A, S | XLD |
| Cleidocranial dysplasia | RUNX2 | S, Arr | AD |
| Diastrophic dysplasia | SLC26A2 | S | AR |
| Hereditary multiple exostoses | EXT1, EXT2 | S | AD |
| Hypochondroplasia | FGFR3 | TM | AD |
| Hypophosphatasia | ALPL | A, S | AD, AR |
| Hypophosphatemic rickets | |||
| X-linked dominant | PHEX | S, Dup, Del | XLD |
| Autosomal dominant | FGF23 | S | AD |
| Kniest dysplasia | COL2A1 | S | AD |
| Langer mesomelic dwarfism | SHOX | S, Arr | AR |
| Leri-Weill dyschondrosteosis | SHOX | S, Arr | XLD |
| Multiple epiphyseal dysplasia | COL9A1, COL9A2, COL3, COMP, MATN3 | S | AD |
| DTDST | AR | ||
| Mucopolysaccharidoses | |||
| Type 1H, 1S, 1H/S | IDUA | A, E | AR |
| Type II | IDS | A, E, S | XLR |
| Types IVA and IVB | GALNS, GLB1 | A, E | AR |
| Type VI | ARSB | A, E | AR |
| Type VII | SUSB | A, E | AR |
| Osteogenesis imperfecta | |||
| Type 1 | COL1A1, COL1A2 | S, B | AD |
| Type 3 | COL1A1, COL1A2 | S, B | AD |
| Type 4 | COL1A1, COL1A2 | S, B | AD |
| Type 7 | CRTAP | S | AR |
| Type 8 | LEPRE1 | S | AR |
| Pseudoachondroplasia | COMP | S | AD |
| Pycnodysostosis | CTSKa | AR | |
| Schmid metaphyseal dysplasia | COL10A1 | S | AD |
| Schwartz-Jampel | HSPG2a, LIFRa | AR | |
| Spondyloepiphyseal dysplasia (congenita, tarda) | COL2A1 | S | AD |
| Spondylepiphyseal dysplasia tarda, X-linked | SEDL | S | XLR |
| Spondylocarpotarsal synostosis | FLNB | S | AR |
| Trichorhinophalageal syndrome 1 | TRPS1 | FISH | AD |
a
Testing not available in the United States at the time of manuscript preparation.
A, analyte (biochemical); AD, autosomal dominant; AR, autosomal recessive; Arr, array comparative genomic hybridization; Del/Dup, deletion/duplication analysis; E, enzyme assay; FISH, fluorescence in situ hybridization; S, gene sequencing; Sp, sporadic; TM, targeted mutation analysis; XLD, X-linked dominant; XLR, X-linked recessive.