Conditions / Syndrome
Meier-Gorlin syndrome 5
info · Syndrome
A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC6 gene on chromosome 17q21.
Signs and symptoms
- Small earlobe
- Long philtrum
- Short stature
- Gastroesophageal reflux
- Hypoplasia of the capital femoral epiphysis
- Failure to thrive
- Mild global developmental delay
- Thick vermilion border
- Microtia
- Submucous cleft hard palate