Living with Arrhinia with choanal atresia and microphthalmia syndrome
A rare genetic condition (BAMS) with a missing or underdeveloped nose, eye differences, and delayed puberty.
Understanding Arrhinia with choanal atresia and microphthalmia syndrome
Most people are born without an external nose, or with a very small one. They may be missing the smell nerve structure (olfactory bulb), so smell and taste are reduced. Eyes are usually very small or absent, which can cause severe vision loss or blindness. Nasal blockage can cause breathing trouble, especially in babies. Low hormones that direct sexual development often delay puberty without treatment.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing or underdeveloped nose (arhinia)
- Very small or absent eyes
- Blindness or severe vision loss
- Blocked back opening of the nose (choanal atresia)
- Reduced sense of smell
- Low sex hormones (hypogonadotropic hypogonadism)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include ear, nose, and throat specialists, eye disease specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in SMCHD1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Resolve: The National Infertility Association and Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: Resolve: The National Infertility Association, Pituitary Network Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Resolve: The National Infertility Association and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the SMCHD1 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: arhinia choanal atresia microphthalmia; arhinia, choanal atresia, and microphthalmia; arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism; arrhinia-choanal atresia-microphthalmia syndrome; bams; bosma arhinia microphthalmia syndrome
Patient organizations
- Resolve: The National Infertility AssociationInfertility · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Arrhinia with choanal atresia and microphthalmia syndrome.
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