Conditions / Syndrome
Potocki-Shaffer syndrome
info · Syndrome
A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2.
Signs and symptoms
- Multiple exostoses
- Downturned corners of mouth
- Single transverse palmar crease
- Micropenis
- Parietal foramina
- Intellectual disability
- Short philtrum
- Brachycephaly
- Sparse lateral eyebrow
- Brachydactyly
Also known as: 11p11.2 deletion; PSS; proximal 11p deletion syndrome