Conditions / Syndrome
Coffin-Siris syndrome 6
info · Syndrome
A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome
A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that has_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12.
Signs and symptoms
- Short stature
- Exaggerated cupid's bow
- Shoulder dystocia
- Calcified placenta
- Thin corpus callosum
- Infantile spasms
- Unusual VZV skin infection
- Postnatal growth retardation
- Hyperactivity
- Downslanted palpebral fissures