Conditions / Syndrome
Meier-Gorlin syndrome 4
info · Syndrome
A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDT1 gene on chromosome 16q24.
Signs and symptoms
- Microtia
- Patellar aplasia
- Low-set ears
- Micrognathia
- Thick lower lip vermilion
- Short stature
- Delayed skeletal maturation
- Slender long bone
- Birth length less than 3rd percentile
- Emphysema