Craniofrontonasal Dysplasia: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Craniofrontonasal Dysplasia?
A geneticist (a doctor who treats inherited conditions) and a pediatrician (a children's doctor) usually lead care for craniofrontonasal dysplasia. A neurologist (a brain and nerve doctor) or an orthopedic doctor (a bone and joint doctor) may also help. 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 is craniofrontonasal dysplasia?
Craniofrontonasal dysplasia is also called craniofrontonasal syndrome. It is a rare condition in which certain bones of the skull close too early. This is called craniosynostosis. The early closing changes the shape of the head and face. The name comes from the body parts it affects: the skull (cranio), the face (fronto), and the nose (nasal).
In this condition, the skull bones along the coronal suture close early. The coronal suture is the growth line that goes over the head from ear to ear. It is very rare, and more than 115 cases have been described in the scientific literature.
Symptoms
Signs can be different from person to person. They can include:
- An unusual head shape and facial features, with the two sides of the face different in size and shape.
- Wide-set eyes, eyes that do not point in the same direction, and eye movements that a person cannot control.
- A slit in the tip of the nose, a wide nasal bridge, and sometimes a cleft in the upper lip, with or without a cleft in the roof of the mouth.
- Extra folds of skin on the neck, ridged nails, and fingers or toes that curve, are extra, or are fused together.
- A sunken chest, a spine that curves to the side, or narrow and sloped shoulders.
- Eyebrows that grow together in the middle, a widow's peak hairline, or wiry hair.
Some people have brain differences. For example, the tissue that connects the left and right halves of the brain may be missing or underdeveloped. Even so, thinking skills are usually not affected. Females typically have more severe signs than males.
Causes and who gets it
Craniofrontonasal dysplasia is caused by changes in a gene called EFNB1. This gene makes a protein called ephrin B1. The gene changes cause a shortage of this protein. Without enough of it, cells do not stick together as they should, and tissues do not form normally before birth.
The condition is inherited in an X-linked pattern. This means the changed gene is on the X chromosome, one of the two sex chromosomes. Fathers cannot pass X-linked traits to their sons.
How doctors diagnose it
For early skull closing in general, the doctor feels the baby's head and does a physical exam. Tests may include measuring the head, X-rays of the skull, and a CT scan of the head.
For rare diseases in general, getting an accurate diagnosis takes more than six years on average. Children's hospitals and university medical centers have teams of specialists. They work together on hard cases.
Treatment
For early closing of the skull sutures, surgery is usually needed. It is done while the baby is still an infant. The goals of surgery are to relieve pressure on the brain, make sure there is room for the brain to grow, and improve the look of the head.
Without correction, the head shape problem can be severe and permanent. A child's outcome depends on how many sutures are involved and on the child's overall health.
A primary care doctor can be the main point of contact and can refer you to specialists. Geneticists, neurologists, and orthopedic doctors may help with care. Patient groups can also help families connect.
When to see a doctor
Contact your child's doctor if your child has an unusual head shape, problems with growth, or raised ridges on the skull.
Call 911 if a child has a seizure, is unconscious, or has trouble breathing. Also call 911 for a severe headache or vomiting, especially after a head injury.
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 kind of doctor can follow your child's growth and help set up visits with specialists such as geneticists.
Common questions
Is craniofrontonasal dysplasia inherited?
Yes, it is inherited in an X-linked pattern, which means the changed gene is on the X chromosome. Fathers cannot pass X-linked traits to their sons.
Does craniofrontonasal dysplasia affect intelligence?
Thinking skills are usually not affected in people with this condition. Some people do have brain differences. For example, the tissue that connects the left and right halves of the brain may be missing or underdeveloped.
Why are females affected more than males?
Females typically have more severe signs than males, who often have wide-set eyes and rarely a cleft lip. Researchers suspect this is partly because of X-inactivation. In this normal process, one of the two X chromosomes in a female is turned off in each cell.
What is craniosynostosis?
Craniosynostosis is a birth defect in which one or more sutures on a baby's head close earlier than usual. Sutures are the lines where the skull bones meet.
Sources
- MedlinePlus Genetics - Craniofrontonasal syndrome
- NIH Genetic and Rare Diseases Information Center - Craniofrontonasal syndrome
- MedlinePlus - Craniosynostosis
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.
