Even rarer syndroms on chromosome 11

The following syndromes are also associated with chromosome 11, but occur less frequently.

1. Beckwith-Wiedemann syndrome: This syndrome arises from abnormal regulation of genes on the short arm of chromosome 11 (11p15.5). It leads to excessive growth, an increased risk of certain types of cancer, and other features such as a large tongue and umbilical hernias.
2. Ataxia-telangiectasia: This is a rare, inherited disorder that affects the nervous system and the immune system. It is caused by mutations in the ATM gene on chromosome 11. People with this condition have coordination problems, a weakened immune system, and an increased risk of cancer.
3. Sickle cell disease: This is a blood disorder caused by a mutation in the HBB gene on chromosome 11. It leads to abnormally shaped red blood cells that can get stuck in blood vessels, causing pain and organ damage.
4. WAGR syndrome: This syndrome is caused by a deletion of a group of genes on chromosome 11 (11p13). It stands for:
   • Wilms' tumor: A type of kidney cancer that mostly affects children.
   • Aniridia: The partial or complete absence of the iris (the colored part of the eye).
   • Genitourinary abnormalities: Problems with the genital and urinary organs, such as undescended testicles or abnormalities in the urinary tract.
   • Retardation (intellectual disability): Varying degrees of intellectual disabilities.
5. Russell-Silver syndrome: This is a growth disorder caused by abnormal regulation of genes on chromosome 11 (11p15) and sometimes chromosome 7. It leads to low birth weight, poor growth after birth, a relatively large head, a triangular face, a prominent forehead, asymmetrical growth, and feeding problems.