Expanding the Phenotypic Spectrum of Kenny–Caffey Syndrome
Authors' conclusion
Our case series established chronic kidney disease as a new feature of KCS2. In the literature, we found substantial overlap in the phenotypic spectra of KCS1 and KCS2, but identified intellectual disability and the abnormal bone phenotype as the most distinguishing features.
Study context
- Population
- Patients with genetically confirmed Kenny-Caffey syndrome; own cohort of 10 KCS2 patients from 7 families plus literature cases (PubMed, Scopus)26 KCS1 + 16 KCS2 papers
- Participants
- 205 patients
- Comparison
- KCS1 vs KCS2 phenotypes
- Outcome
- Phenotypes of KCS1 vs KCS2 (systematic review)
Methodological detailsgenetically confirmed cases, Cochrane guidelines for data extraction
- Genetically confirmed cases
- Cochrane guidelines for data extraction
Pooled result
As reported in the abstract
- Postnatal growth retardation, KCS1 vs KCS2
- 52/52 vs 23/23
- Low PTH levels, KCS1 vs KCS2
- 121/121 vs 16/20
- Electrolyte disturbances, KCS1 vs KCS2
- 139/139 vs 24/27
- Dental abnormalities, KCS1 vs KCS2
- 47/50 vs 15/16
- Ocular abnormalities, KCS1 vs KCS2
- 57/60 vs 22/23
- Seizures/spasms, KCS1 vs KCS2
- 103/115 vs 13/16
- Intellectual disability (more prevalent in KCS1), KCS1 vs KCS2
- 74/80 vs 5/24
- Bone cortical thickening (more common in KCS2), KCS1 vs KCS2
- 1/18 vs 16/20
- Medullary stenosis (more common in KCS2), KCS1 vs KCS2
- 7/46 vs 27/28
Further pooled results
Own KCS2 cohort
- Intellectual disability
- 3/10
- CKD
- 6/10
- Not considered common findings in KCS2
Original publication
Expanding the Phenotypic Spectrum of Kenny–Caffey Syndrome. J Clin Endocrinol Metab. Published 14 March 2023. doi:10.
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