Autosomal dominant Kenny-Caffey syndrome

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.

Also known as: KCS2, Kenny-Caffey syndrome type 2, Kenny-Caffey syndrome, autosomal dominant, Kenny-Caffey syndrome, type 2, dwarfism, cortical thickening of tubular bones and transient hypocalcemia

0 clinical trials for this condition and its sub-types, 0 tagged with Autosomal dominant Kenny-Caffey syndrome itself.