Conditions / Syndrome
Cornelia de Lange syndrome 5
info · Syndrome
A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13.
Signs and symptoms
- Proximal placement of thumb
- Hirsutism
- Highly arched eyebrow
- Global developmental delay
- Low anterior hairline
- Long eyelashes
- Clinodactyly of the 5th finger
- Synophrys
- Limited elbow extension
- Long philtrum