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.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0016516
Kenny-Caffey syndrome
is_a
MONDO:1060172
FAM111A-related skeletal dysplasia
is_a
KCS2
exact
Kenny-Caffey syndrome type 2
exact
Kenny-Caffey syndrome, autosomal dominant
exact
Kenny-Caffey syndrome, type 2
exact
dwarfism, cortical thickening of tubular bones and transient hypocalcemia
exact