Living with Anophthalmia plus syndrome
A very rare syndrome present from birth that mainly affects the eyes, with cleft lip or palate.
Understanding Anophthalmia plus syndrome
The most common findings are missing eyes (anophthalmia) or very small eyes, and cleft lip and/or cleft palate. Other features can include wide-set eyes, low-set ears, narrow or blocked nasal passages, and a spine opening defect (spina bifida). It is seen during pregnancy and in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing eyeballs (anophthalmia)
- Cleft palate
- Cleft of the upper lip
- Wide-set eyes (hypertelorism)
- Blocked back opening of the nose (choanal atresia)
- Ears rotated toward the back of the head
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 genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
American Cleft Palate Craniofacial Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: American Cleft Palate Craniofacial 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 American Cleft Palate Craniofacial Association
- 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 it may be inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent. The genetic cause has not been found yet.
Also known as: fryns anophthalmia syndrome; fryns microphthalmia syndrome; microphthalmia with facial clefting
Patient organizations
- American Cleft Palate Craniofacial AssociationAnophthalmia plus syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Anophthalmia plus syndrome.
Explore research for Anophthalmia plus syndrome
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- Eligibility is confirmed by the study team
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