Bosma Arhinia Microphthalmia Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Bosma Arhinia Microphthalmia Syndrome?
A primary care doctor helps coordinate care and handles everyday health needs, working with specialists such as a surgeon who rebuilds the nose, an ophthalmologist, an endocrinologist, and a genetics expert. A direct primary care or concierge doctor can spend extra time coordinating this kind of complex care.
What it is
Bosma arhinia microphthalmia syndrome is a very rare condition that a person is born with. It affects the nose and the eyes. People with this syndrome have no nose on the outside of the face, which doctors call arhinia, and very small eyes, called microphthalmia.
Symptoms
The most visible sign is the absence of the nose, including the nasal passages inside the skull, which makes it hard to breathe through the nose. The eyes are small and often do not see well, and many people lose the sense of smell. Some do not go through puberty on their own, and other features can include a small jaw and dental problems.
Causes and who gets it
The syndrome is caused by a change in a gene called SMCHD1. In most cases, the gene change happens for the first time in the child and is not passed down from either parent, though in some families it can be passed on in an autosomal dominant pattern. The condition is extremely rare.
How doctors diagnose it
Doctors often suspect the syndrome right after birth because the face looks different in a very specific way. A CT scan can show that the nasal passages and smell structures are missing, an eye exam can measure the eyes, and a genetic test can confirm the diagnosis.
Treatment
There is no single treatment that fixes the syndrome; care focuses on each problem one at a time. Surgeons can build a nose and open airways so the person can breathe and smell in a limited way. Eye doctors can offer glasses or low vision aids, and hormone treatments can help when puberty does not start on its own.
When to see a doctor
A baby with this syndrome is usually diagnosed at birth and placed under the care of a team of specialists. Parents should see a doctor promptly if a child has trouble breathing, has trouble feeding, or shows signs of an eye infection.
Common questions
Can a person with this syndrome smell or taste?
Most people with the syndrome cannot smell because the smell structures never formed. Taste often still works, since taste depends mostly on the mouth. Food may seem bland without the sense of smell to add flavor.
Can the nose be rebuilt with surgery?
Surgeons can build an outer nose and create airways so the person can breathe more easily. This usually takes several operations spread over years. The results differ from person to person. A full sense of smell does not usually return.
Will my other children have the syndrome?
In most cases the gene change happened for the first time in the affected child. So the chance of it happening again is low. A genetics expert can test the parents and give a more exact answer for your family. Genetic counseling is often offered to families after a diagnosis.
Can people with this syndrome live normal lives?
Many reported patients have grown into adults who work, study, and raise families. Vision and breathing problems can require ongoing care. Each person's outcome is different, and regular medical follow-up helps.
Sources
- NIH Genetic and Rare Diseases Information Center - Arrhinia with choanal atresia and microphthalmia syndrome
- MedlinePlus Genetics - Bosma arhinia microphthalmia 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.
