Wolf-Hirschhorn syndrome

A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3.

Signs and symptoms

• Decreased muscle mass
• Generalized hypotonia
• EEG abnormality
• Global developmental delay
• Small for gestational age
• Intrauterine growth retardation
• Growth delay
• Immunodeficiency
• Epicanthus
• Abnormal vertebral body morphology

Also known as: 4p deletion syndrome; PITT SYNDROME; Pitt-Rogers-Danks Syndrome; chromosome 4p16.3 deletion syndrome