Conditions / Syndrome
Kenny-Caffey syndrome type 2
info · Syndrome
A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12.
Signs and symptoms
- Severe short stature
- Prominent forehead
- Microphthalmia
- Hypocalcemia
- Hypermetropia
- Basal ganglia calcification
- Papilledema
- Seizure
- Abnormality of the medullary cavity of the long bones
- Hypoparathyroidism