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Kenny-Caffey Syndrome Type 2 (KCS2): A New Case Report and Patient Follow-Up Optimization.

Kyriaki Hatziagapiou¹, Amalia Sertedaki¹, Vasiliki Dermentzoglou²

¹Division of Endocrinology, Diabetes and Metabolism, ENDO-ERN Center for Rare Pediatric Endocrine Disorders, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, 11527 Athens, Greece.

Journal of Clinical Medicine

|January 11, 2025

Summary

Kenny-Caffey syndrome 2 (KCS2) is a rare genetic disorder causing hypoparathyroidism and short stature due to FAM111A gene variants. This case highlights KCS2

Keywords:

FAM111A Kenny–Caffey syndrome type 2 cortical thickening empty sella gracile bone dysplasia/osteocraniostenosis medullary stenosis nanophthalmos parathormone

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Area of Science:

Genetics
Endocrinology
Pediatrics

Background:

Kenny-Caffey syndrome 2 (KCS2) is a rare autosomal dominant disorder.
It results from pathogenic variants in the FAM111A gene.
FAM111A plays a role in parathyroid hormone (PTH) synthesis and skeletal development.

Observation:

A boy presented with characteristic KCS2 features including dysmorphism and delayed fontanel closure.
Biochemical tests showed hypocalcemia, high-normal phosphorus, and low-normal PTH.
Cranial MRI revealed a small pituitary, empty sella, microphthalmia, and tortuous optic nerves.

Findings:

Skeletal surveys indicated long bone cortical thickening and medullary stenosis.
Genomic analysis identified a known pathogenic FAM111A variant (c.1706G>A, p. R569H).
This variant is associated with KCS2 and nanophthalmos.

Implications:

KCS2 should be considered in the differential diagnosis of hypoparathyroidism and short stature.
Understanding FAM111A variants aids in personalized KCS2 patient management.
This research offers insights into FAM111A's role in embryogenesis and disease pathogenesis.