Hardikar Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Hardikar Syndrome?
A pediatrician or family doctor is usually the first to notice something is wrong and starts the referral process. Because the lip, liver, heart, and eyes can be affected, care often involves several specialists, such as a plastic surgeon, a liver doctor, a heart doctor, and an eye doctor. A genetics specialist often helps guide the team.
What is Hardikar syndrome?
Hardikar syndrome is a very rare condition that a baby is born with. It is caused by a change in a gene called MED12. It affects mostly girls and women and can involve the lip and mouth, the liver, the gut, the heart, and the eyes.
Hardikar syndrome is a multisystem disorder, meaning it affects more than one body system. Typical features include a cleft lip, which is a gap in the upper lip, with or without a cleft palate, a gap in the roof of the mouth. Many people also have problems with how bile flows out of the liver, a gut that did not turn into its normal position, and heart problems. Intelligence is usually not affected.
Symptoms
Signs are present from birth. Besides a cleft lip or palate, they can include yellowing of the skin and eyes, called jaundice, from liver and bile duct problems. They can also include kidney or urinary tract problems, a narrowing of the main body artery called coarctation of the aorta, and an eye problem called pigmentary retinopathy that can cause vision loss over time.
Causes and who gets it
Hardikar syndrome is caused by changes in the MED12 gene, which sits on the X chromosome. In the cases reported so far, the change was new in the child and was not inherited from a parent. Only girls and women with the condition have been described. Because very few people have been reported, doctors are still learning about it.
How doctors diagnose it
Doctors look at the pattern of features, such as cleft lip or palate, liver and bile problems, and eye changes. Imaging and blood tests check the liver, kidneys, and heart, and an eye exam looks for retina changes. Genetic testing of the MED12 gene can confirm the diagnosis.
Treatment
There is no cure, so treatment focuses on each person's problems. Surgery can repair a cleft lip or palate or a gut that is out of position, and doctors manage liver and bile problems and eye problems. Experts suggest regular checkups, including heart ultrasounds, liver checks, and scans of blood vessels, because some people can develop weak spots in blood vessels called aneurysms.
When to see a doctor
A baby with a cleft lip or palate, yellow skin or eyes, poor feeding, or poor growth should be seen promptly. Older children and adults with the diagnosis should keep all scheduled checkups with their specialists, and should get care quickly for any new vision changes.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either can coordinate care for a family managing a rare condition, offering longer appointments, routine checkups, growth monitoring, and referrals to specialists.
Common questions
Is Hardikar syndrome curable?
No cure is known, and treatment focuses on managing each problem. Surgery and ongoing care can help with many of the features. Outcomes differ from person to person.
How rare is Hardikar syndrome?
It is extremely rare. Only a small number of people have been reported in the medical literature, so many doctors have never seen a case.
Can Hardikar syndrome be found before birth?
Some features, such as a cleft lip or heart problem, may show up on a prenatal ultrasound, a picture of a baby made with sound waves before birth. A clear diagnosis usually needs genetic testing, which can be done after birth.
Will my other children have it?
In the reported cases, the gene change was new in the child and was not passed down from a parent. A genetic counselor, a trained expert in how conditions pass through families, can help families understand their own risks.
Sources
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
