Culler Jones Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Culler Jones Syndrome?
Care is usually shared by several doctors. An endocrinologist, a hormone specialist, treats the pituitary gland problems. A geneticist can confirm the diagnosis, and an orthopedic or plastic surgeon may help with extra fingers or a cleft lip or palate. 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
Culler Jones syndrome is a rare genetic condition. The NIH Genetic and Rare Diseases Information Center lists it as another name for postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome. It affects how the pituitary gland, the face, and the hands or feet form before birth. The pituitary is a small gland at the base of the brain that makes hormones, the body's chemical messengers. Very little has been written about it, so many details are still unknown.
Symptoms
Signs vary from person to person. Some people have an extra finger or toe on the pinky side of the hand or foot. The pituitary gland may be underdeveloped, which can cause low hormone levels, slow growth, short height, and delayed puberty. Some people have eyes that sit close together, a flat nose, or a cleft lip or palate, which is a gap in the lip or roof of the mouth.
Causes and who gets it
The condition is caused by changes, called mutations, in the GLI2 gene. This gene helps guide how the brain, face, and limbs form. The same gene can also cause a more severe condition called holoprosencephaly, in which the brain does not divide properly. Culler Jones syndrome is passed down in an autosomal dominant pattern, meaning one changed copy of the gene is enough. A person with the change has a 50 percent chance of passing it to each child. It is very rare.
How doctors diagnose it
A doctor starts with a medical history and a physical exam. A brain MRI scan often shows a small pituitary gland. Hormone blood tests check how well the pituitary is working. Genetic testing for the GLI2 gene can confirm the diagnosis.
Treatment
There is no cure. Treatment focuses on the symptoms. Doctors can replace low hormones with medicine, such as growth hormone. Surgery may help with extra fingers or toes or a cleft lip or palate. A team of specialists usually shares the care and checks in over time.
When to see a doctor
See a doctor if a child has slow growth, delayed puberty, a cleft lip or palate, or extra fingers or toes. Seek care quickly for signs of very low hormone levels, such as extreme tiredness, vomiting, or fainting, or for very low blood sugar in a baby.
How a direct primary care or concierge doctor fits in
A direct primary care doctor is paid with a flat monthly fee instead of insurance for visits. A concierge doctor works similarly but usually charges more and often bills insurance alongside the fee. These doctors offer longer appointments and easier access, which helps when a condition is unusual. They can handle the first evaluation, order tests, and refer to a specialist when needed, often staying involved to coordinate care.
Common questions
Does Culler Jones syndrome have another name?
Yes. The NIH Genetic and Rare Diseases Information Center lists Culler-Jones syndrome as another name for postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome. It is rare, so it is not well known.
What gene causes it?
Changes in the GLI2 gene cause it. The condition is passed down in an autosomal dominant pattern, so a parent with the change has a 50 percent chance of passing it to each child.
Can it be treated?
It cannot be cured, but many symptoms can be treated. Low hormones can be replaced with medicine, and surgery may help with extra fingers or toes or a cleft lip or palate.
Should my family be tested?
A genetic counselor, a trained expert who explains inherited conditions, can explain the chances of passing it on and whether testing makes sense for relatives. Parents can ask their doctor for a referral.
Sources
- NIH Genetic and Rare Diseases Information Center - Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
- National Organization for Rare Disorders - Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism 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.
