Autosomal dominant Kenny-Caffey syndrome
Autosomal dominant Kenny-Caffey syndrome
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.
Also known as dwarfism, cortical thickening of tubular bones and transient hypocalcemia, KCS2, Kenny-Caffey syndrome type 2, Kenny-Caffey syndrome, autosomal dominant, Kenny-Caffey syndrome, type 2 — per MONDO