isolated congenital growth hormone deficiency short stature due to growth hormone qualitative anomaly https://www.malacards.org/card/kowarski_syndrome icd11.foundation:1665498704 GARD:0000408 Orphanet:629 Kowarski syndrome UMLS:C1849779 OMIM:262650 MEDGEN:340412 MESH:C537505 Short stature due to growth hormone qualitative anomaly is characterized by growth retardation and short stature (despite the presence of normal or slightly elevated levels of immunoreactive growth hormone, GH), low concentrations of insulin-like growth factor-I (IGF-I) and a significant increase in growth rate following recombinant GH therapy. Prevalence is unknown but only a few cases have been reported in the literature. The syndrome is caused by various mutations in the GH1 gene (17q22-q24) that result in structural GH anomalies and a biologically inactive molecule. Transmission is autosomal recessive. MONDO:0009879 obsolete_short stature due to growth hormone qualitative anomaly