Arrhinia: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Arrhinia?
A pediatrician usually coordinates the child's overall care. Because arrhinia affects many body systems, the team may include an ear, nose, and throat doctor, a reconstructive surgeon, an eye doctor, and an endocrinologist. 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
Arrhinia is a very rare condition in which a baby is born without a nose. More exactly, the outside of the nose and the nasal passages inside never form. Doctors may also call this congenital arhinia, which means the nose is missing from birth. Because the nose warms air and helps with smell, babies with arrhinia need special care from the very first days of life.
Symptoms
The most visible sign is the absence of the outside of the nose. Babies may have a small airway behind the nose, making breathing and feeding hard, and most cannot smell. Some also have eye problems, hormone problems that affect growth and puberty, or learning and speech delays.
Causes and who gets it
Arrhinia is extremely rare, with only a small number of cases reported worldwide. In some families it is linked to changes in a gene called SMCHD1, though often no clear cause is found. It does not appear to be caused by anything the parents did during pregnancy.
How doctors diagnose it
Doctors can often see the missing nose during a physical exam at birth. Imaging tests such as a CT scan show whether the nasal passages and sinuses formed, and genetic testing may find a cause. Because hormone problems are common, endocrine testing is often part of the workup.
Treatment
There is no way to grow a missing nose, so treatment focuses on helping the child breathe, eat, and develop. Newborns may need help keeping their airway open, and surgeons can build a new airway passage in some children. Later, reconstructive surgery can create an outer nose in stages, or a prosthetic nose can be worn. Hormone problems are treated with medicines prescribed by a hormone specialist.
When to see a doctor
Arrhinia is usually found at birth, and care starts right away in the hospital. Call the doctor if the child has trouble breathing, is not feeding well, is not growing as expected, or shows signs of a hormone problem such as very slow growth.
How a direct primary care or concierge doctor fits in
A direct primary care doctor is paid a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either type can spend extra time coordinating care, managing checkups, growth monitoring, and follow-ups, and referring the family to the right specialists when needed. Families who want longer visits and easier access to their doctor may find this model helpful, though it is one option among many.
Common questions
Can a person with arrhinia smell anything?
Most people with arrhinia cannot smell, because the nasal tissue needed for smell never formed. Some may have partial smell if small amounts of tissue are present.
Can arrhinia be fixed with surgery?
Surgery can build an airway and create an outer nose, often over several procedures as the child grows. It usually improves breathing and appearance, but it does not restore smell.
Will my other children have arrhinia?
Most cases happen in families with no history of the condition. When a gene change is found, a genetic counselor can explain the chance of it happening again.
Sources
- MedlinePlus - Birth Defects
- MedlinePlus - Bosma arhinia microphthalmia syndrome: MedlinePlus Genetics
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.
