Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, et al. - In the present study, the researchers sought to characterize the genotype and phenotype of 16 probands with heterozygous variants in IHH. In patients with short stature and/or brachydactyly in which the genetic cause was unknown, targeted Next-generation sequencing or Sanger sequencing was performed. According to results, 15 different heterozygous IHH variants have been identified, one of which is the first reported complete deletion of IHH. None of the patients had a classical phenotype of brachydactyly type A1. IHH variants can cause short stature and/or mild skeletal hand defects. Defects in this gene should be considered in people with these findings particularly when there is an autosomal dominant pattern of inheritance. While no genotype-phenotype association has been found, cosegregation studies should be conducted and where possible functional characterisation before concluding that a variant is causative.