Living with Atkin-Flaitz syndrome
A rare X-linked genetic condition with learning differences, a large head, short stature, and distinctive facial features.
Understanding Atkin-Flaitz syndrome
Facial features can include a prominent forehead and brow, wide-set eyes, a broad nasal tip, a thick lower lip, and small teeth. Other features reported include seizures, large testes after puberty, obesity, and short, broad hands with tapered fingers. It is noticed in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Large head (macrocephaly)
- Short stature
- Wide-set eyes and a prominent brow
- Large testes after puberty
- Obesity
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 and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); 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 genes (also called variants) cause this syndrome. It is X-linked, meaning the gene is on the X chromosome.
Also known as: atkin flaitz syndrome; atkin syndrome; x-linked intellectual disability atkin type; x-linked intellectual disability, atkin type; x-linked mental retardation syndrome, atkin 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 Atkin-Flaitz syndrome.
Explore research for Atkin-Flaitz syndrome
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Find actively recruiting studies for Atkin-Flaitz 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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