chromosome 17q23.1-q23.2 deletion syndrome

A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

Signs and symptoms

• Global developmental delay
• Long fingers
• Long toe
• Slender finger
• Postnatal growth retardation
• Microcephaly
• Small for gestational age
• Talipes equinovarus
• Patent ductus arteriosus
• Pulmonary arterial hypertension

Also known as: 17q23.1-q23.2 microdeletion syndrome; 17q23.1q23.2 microdeletion syndrome