Diagnosis of hypochondroplasia: international Delphi consensus recommendations

Diagnostic recommendations that integrate clinical, radiographic and genetic approaches to improve recognition and facilitate earlier diagnosis in individuals with hypochondroplasia, and to support optimal care.

An independent network of specialists managing achondroplasia and related conditions, used a modified Delphi process to consolidate their insights and expertise, alongside those of other experts in hypochondroplasia, into a set of diagnostic recommendations.