Trichohepatoenteric Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Trichohepatoenteric Syndrome?
A pediatric gastroenterologist usually leads the care team, with help from liver doctors, nutrition experts, and geneticists. Because the condition is so rare, care is often coordinated through a major children's hospital. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What it is
Trichohepatoenteric syndrome is a very rare genetic disease passed down from parents to children. The name describes the three areas it affects: tricho the hair, hepato the liver, and enteric the intestines. Babies with this condition often have unusual hair, liver problems, and severe trouble absorbing nutrients, a problem doctors sometimes call intractable diarrhea of infancy.
Symptoms
Symptoms usually begin in the first weeks or months of life. The most common sign is long lasting diarrhea that does not go away. Because the intestines cannot absorb nutrients well, babies may not gain weight or grow as expected, called failure to thrive. Other signs include fine, sparse hair, jaundice from liver disease, and sometimes frequent infections or heart defects.
Causes and who gets it
The syndrome is caused by changes in certain genes, most often TTC37 or SKIV2L. A child must inherit a changed copy from both parents; parents carrying one changed copy usually have no symptoms. It is extremely rare and can run in families.
How doctors diagnose it
Doctors start with the pattern of symptoms, especially early diarrhea with unusual hair and liver problems. Blood tests check nutrition, liver function, and infection, and a biopsy may be taken from the intestine or liver. Genetic testing confirms the diagnosis.
Treatment
There is no cure. Treatment focuses on managing symptoms, tailored to each patient. Many children need long term intravenous nutrition because their intestines cannot absorb enough food. Doctors may prescribe medicines to slow diarrhea, treat infections, or support the liver.
When to see a doctor
Any baby with diarrhea lasting more than a few days, poor weight gain, or yellowing of the skin and eyes should be seen promptly. Long lasting diarrhea can quickly cause dehydration, which in babies is a medical emergency.
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 handle routine care while coordinating the many specialists a child needs.
Common questions
Is trichohepatoenteric syndrome life threatening?
It can be serious, especially in infancy. The main risks are severe diarrhea, malnutrition, and infections. Outcomes differ from child to child. Some children do better than others with careful medical care. Families should talk with their care team about what to expect for their child.
Can trichohepatoenteric syndrome be prevented?
There is no known way to prevent it, since it is inherited through genes. Families with a history of the condition can meet with a genetic counselor before or during pregnancy to learn about testing options.
Will my child need to stay in the hospital?
Many children with this condition need hospital care at some point. This is often for dehydration, infections, or nutrition problems. Some children need long term support with intravenous feeding at home. Each child's needs are different.
Does the hair problem get better with treatment?
The unusual hair is part of the genetic condition. It usually does not return to typical growth with nutrition treatment alone. Improving overall nutrition can still help a child's general health.
Sources
- NIH Genetic and Rare Diseases Information Center - Trichohepatoenteric syndrome
- MedlinePlus Genetics - Trichohepatoenteric syndrome
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.
