Living with GAPO syndrome
A rare genetic syndrome with slow growth, hair loss, teeth that don't come in, and eye problems.
Understanding GAPO syndrome
The name stands for the main features: growth retardation, alopecia (hair loss), pseudoanodontia (teeth that do not show), and eye (ocular) differences. Features may include bone and facial differences. It is usually noticed in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth
- Early balding
- Delayed eruption of teeth
- Bulging of the cornea (keratoconus)
- Broad forehead and flat nasal bridge
- Very flexible joints (joint hypermobility)
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 brain and nervous system specialists, eye disease specialists, genetic specialists and gum, teeth and mouth specialists.
- 3Consider genetic testing
Changes in ANTXR1 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
National Foundation for Ectodermal Dysplasias may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists)
- Expert care
- Expert lists: National Foundation for Ectodermal Dysplasias
- 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 National Foundation for Ectodermal Dysplasias 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
Changes in the ANTXR1 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: gapo (growth retardation, alopecia, pseudoanodontia, optic atrophy) syndrome; growth delay-alopecia-pseudoanodontia-optic atrophy syndrome; growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome
Patient organizations
- National Foundation for Ectodermal DysplasiasEctodermal dysplasias · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with GAPO syndrome.
Explore research for GAPO syndrome
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- Recruiting studies from ClinicalTrials.gov
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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