Mckusick Kaufman Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Mckusick Kaufman Syndrome?
A pediatrician or family doctor usually coordinates care. Because the syndrome affects several parts of the body, specialists such as a geneticist, surgeon, urologist, and cardiologist are often involved. 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
McKusick Kaufman syndrome is a rare condition that a person is born with. It is caused by a change in a gene called MKKS, also known as BBS6. People with this syndrome often have extra fingers or toes at birth, and girls may have problems with the reproductive organs.
Symptoms
The most common sign is polydactyly, which means having one or more extra fingers or toes. Girls may have hydrometrocolpos, a buildup of fluid in the vagina and uterus, which can cause a lump in the belly or trouble passing urine. Some babies also have heart defects or breathing problems.
Causes and who gets it
The syndrome happens when a child inherits two copies of a changed MKKS gene, one from each parent. This is called autosomal recessive inheritance, meaning parents usually carry the gene without having the condition. It is very rare and appears more common in families with Amish or Old Order Mennonite backgrounds, though it can occur in any population.
How doctors diagnose it
Doctors often suspect the syndrome right after birth based on physical signs like extra fingers or toes and fluid buildup in the pelvis. Ultrasound can show the fluid buildup and heart problems, and a genetic test can confirm the diagnosis. Doctors may also rule out similar conditions such as Bardet Biedl syndrome.
Treatment
There is no cure, but many problems can be treated. Extra fingers or toes can often be removed with surgery, and hydrometrocolpos is usually treated by draining the fluid. Heart defects may need care from a heart specialist, and with good medical care, many children live full lives.
When to see a doctor
A newborn with extra fingers or toes, a lump in the lower belly, or trouble passing urine should be seen by a doctor right away. Early care matters because fluid buildup can press on the kidneys and other organs. Parents of an affected child may want to talk with a genetic counselor before planning future pregnancies.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of using insurance, while a concierge doctor usually costs more and often works alongside insurance. Either type can manage routine care, order tests, and refer to specialists when needed. Families who want longer visits and easier access sometimes find this model helpful for a rare condition.
Common questions
Is McKusick Kaufman syndrome life threatening?
It can be serious in infancy if fluid buildup or heart defects are not treated, but many of these problems can be corrected. With proper care, many affected children do well.
Will my other children have it?
If both parents carry the changed gene, each child has a one in four chance of having the syndrome. A genetic counselor can explain the chances for your family.
Can the extra fingers or toes be removed?
Yes, surgery can often remove extra digits, usually in early childhood. The timing depends on the child's situation.
Sources
- NIH Genetic and Rare Diseases Information Center - McKusick-Kaufman syndrome
- MedlinePlus Genetics - McKusick-Kaufman 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.
