Living with Armfield syndrome
A rare genetic condition passed on the X chromosome that affects learning, growth, and sometimes seizures and the eyes.
Understanding Armfield syndrome
Cataracts, glaucoma, and cleft palate have also been reported. Other features can include a broad forehead, a small lower jaw, and inguinal hernia. It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability and delayed development
- Seizures
- Short stature
- Small hands and feet
- Cataracts or glaucoma
- Cleft palate
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 and genetic specialists.
- 3Consider genetic testing
Changes in FAM50A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 FAM50A gene cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: armfield x-linked intellectual disability syndrome; intellectual developmental disorder, x-linked, syndromic, armfield type, x-linked recessive; intellectual disability syndrome, x-linked, armfield type; mental retardation syndrome, x-linked, armfield type, x-linked recessive; mrxsa; syndromic x-linked intellectual disability armfield type
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Armfield syndrome.
Explore research for Armfield syndrome
Explore actively recruiting Armfield syndrome studies with HealthSpark.
Find actively recruiting studies for Armfield syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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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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