Chromosome 4q deletion is a chromosome abnormality that affects many different parts of the body. People with this condition are missing genetic material located on the long arm (q) of chromosome 4 in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the deletion and which genes are involved. Common features shared by many people with this deletion include distinctive craniofacial features, skeletal abnormalities, heart defects, intellectual disability, developmental delay, and short stature. Most cases are not inherited, although affected people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.

• BMP3 - skeletal abnormalities and short stature
• SEC31A - distinctive craniofacial features
• PKD2 - kidney abnormalities
• GRID2, NEUROG2 - neurological problems such as seizures, hypotonia, and delayed motor development (i.e. sitting up, walking, etc)
• ANK2, HAND2 - heart defects and/or arrhythmias
• FGF2 - limb (arms and legs) abnormalities

Researchers are working to learn more about the other genes on 4q that may contribute to the features seen in people with a chromosome 4q deletion.

Rarely, this deletion is passed down from parent to child. However, the symptoms and severity can vary between family members.

Please speak to your healthcare provider if you have any questions about your personal medical management plan.

The long-term outlook (prognosis) for people with chromosome 4q deletion varies from person to person. The severity of the condition and the associated signs and symptoms largely depend on the size and location of the deletion and the genes involved.