Kenny-Caffey syndrome (KCS) is a rare hereditary disorder characterized by short stature, hypoparathyroidism and electrolyte disturbances. Kenny-Caffey syndrome type 1 and Kenny-Caffey syndrome type 2 are caused by pathogenic variants in TBCE and FAM111A, respectively. Clinically the phenotypes are difficult to distinguish.
The objective of this study is to determine and expand the phenotypic spectrum of Kenny-Caffey syndrome type 1 and Kenny-Caffey syndrome type 2 in order to anticipate on complications that may arise in these disorders.
In this study clinically and genetically ten Kenny-Caffey syndrome type 2 patients from seven families are analyzed. Because unusual phenotypes in this study‘s cohort are found, a systematic review of genetically confirmed Kenny-Caffey syndrome cases using PubMed and Scopus is performed.
This study’s case series establishes chronic kidney disease as a new feature of Kenny-Caffey syndrome type 2. In literature, substantial overlap in the phenotypic spectra of Kenny-Caffey syndrome type 1 and Kenny-Caffey syndrome type 2 is established, but identifying intellectual disability and the abnormal bone phenotype are the most distinguishing features. Read the full article here.