Due to the small number of signs and symptoms, and rarity,<unk>  is hard to diagnose. Genetic testing, usually exome sequencing, is used to identify the mutation to the GDF5 gene.
Chondrodysplasia, Grebe type
Achondrogenesis type 2
Achondrogenesis type 1B
Metaphyseal chondrodysplasia Schmid type
Spondyloepimetaphyseal dysplasia, Strudwick type
Infantile cortical hyperostosis
Thanatophoric dysplasia
Mondini dysplasia