Conditions / Syndrome
Kenny-Caffey syndrome type 1
info · Syndrome
A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42.
Signs and symptoms
- Carious teeth
- Long clavicle
- Delayed closure of the anterior fontanelle
- Short foot
- Short palm
- Delayed skeletal maturation
- Seizure
- Birth length less than 3rd percentile
- Slender long bone
- Decreased skull ossification