Conditions / Syndrome
mosaic variegated aneuploidy syndrome 2
info · Syndrome
A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21.
Signs and symptoms
- Short stature
- Narrow mouth
- Short nose
- Prominent forehead
- Single transverse palmar crease
- Intellectual disability
- Downslanted palpebral fissures
- Delayed skeletal maturation
- Hypotelorism
- Clinodactyly of the 5th finger