17q12 Awareness Day Date in the current year: July 12, 2026

There are two related but distinct rare genetic conditions caused by changes in the same region on the long arm of chromosome 17 at position q12: 17q12 deletion syndrome (also known as microdeletion or recurrent deletion) and 17q12 duplication syndrome (also known as microduplication or recurrent duplication). The former involves missing genetic information in this segment, while the latter results from extra genetic information.

The region involved in 17q12 syndromes contains several medically important genes that play a role in the development of the kidneys, pancreas, liver, brain, and genitals. 17q12 deletion syndrome and 17q12 duplication syndrome have different sets of symptoms, though there is some overlap. Even among patients with the same syndrome, symptoms can vary greatly. Some patients may have only mild symptoms, while others may have severe developmental delay and disability.

A defining symptom of 17q12 deletion syndrome is renal cysts and diabetes syndrome (RCAD), also known as maturity-onset diabetes of the young type 5 (MODY5). This condition is caused by a deletion in the HNF1B gene. This type of diabetes is characterized by impaired insulin production and slow atrophy of the pancreas. Approximately 40% of patients with 17q12 deletion syndrome develop MODY5.

Other possible features and symptoms of 17q12 deletion syndrome include:

• Kidney and urinary tract abnormalities
• Reproductive system abnormalities, particularly in females
• Subtle characteristic facial features
• Macrocephaly
• Developmental delay
• Speech and language delay
• Learning disability
• Mild to moderate intellectual disability
• Autism spectrum disorder
• Other behavioral and psychiatric conditions (e.g., ADHD, anxiety disorders, bipolar disorder, schizophrenia)
• Epilepsy

Unlike 17q12 deletion syndrome, 17q12 duplication syndrome does not result in diabetes. Its common features include:

• Feeding issues and growth problems
• Speech and language delay
• Low muscle tone (hypotonia)
• Learning or intellectual disability
• Autism spectrum disorder
• Behavioral problems (aggression, compulsive disorders)
• Kidney abnormalities
• Microcephaly
• Seizures

It should be reiterated that not every affected person develops all symptoms, and their severity may vary dramatically, even among family members with the same deletion or duplication. The precise reasons for this variability are not completely understood, but it is thought to result from a combination of factors. Like most rare genetic disorders, 17q12 syndromes are incurable. Treatment focuses on managing symptoms and depends on the individual’s specific symptoms and their severity.

17q12 Awareness Day, also known as 17q12 Deletion/Duplication Awareness Day, was created to raise awareness of these syndromes. Due to their rarity, 17q12 microdeletion and microduplication syndromes are severely underrepresented and underdiagnosed. This means that many affected individuals and their families do not receive the necessary support. The goal of 17q12 Awareness Day is to change that by raising awareness of the syndromes among medical professionals and the general public.