/autosomal dominant Kenny-Caffey syndrome

autosomal dominant Kenny-Caffey syndrome

Rare Disease

MONDO:0007478

Also Known As

KCS2Kenny-Caffey syndrome type 2Kenny-Caffey syndrome, autosomal dominantKenny-Caffey syndrome, type 2dwarfism, cortical thickening of tubular bones and transient hypocalcemia

Definition

An autosomal dominant form of Kenny-Caffey Syndrome due to mutation(s) in the FAM111A gene, encoding protein FAM111A. This condition is characterized by transient hypocalcemia, delayed closure of the anterior fontanel, eye anomalies, including microphthalmia, proportionate short stature, and cortical thickening and medullary stenosis of the tubular bones.