Living with 49,XXXXY syndrome
A chromosome condition that can bring learning and speech delays, low muscle tone, and infertility.
Understanding 49,XXXXY syndrome
People have mild or moderate intellectual disability and learning difficulties, especially with speech. They understand speech better than they can produce it, and many have childhood apraxia of speech. They tend to be shy and friendly, but frustration and outbursts can happen. Low muscle tone and coordination problems delay motor skills. GARD lists onset as childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed speech (childhood apraxia of speech)
- Low muscle tone (hypotonia)
- Attention deficit (ADHD)
- Low testicular function (hypogonadism)
- Fused forearm bones (radioulnar synostosis)
- Very flexible joints
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, genetic specialists, hormone specialists and urinary and male reproductive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Association for X and Y Chromosome Variations and Resolve: The National Infertility Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: Association for X and Y Chromosome Variations, Resolve: The National Infertility 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 Association for X and Y Chromosome Variations 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 genes (also called variants) cause this condition. It involves extra X chromosomes.
Also known as: xxxxy syndrome
Patient organizations
- Association for X and Y Chromosome Variations49,XXXXY syndrome · United States
- Chromodiversity Foundation49,XXXXY syndrome · Chromosome Disorder Outreach
- Resolve: The National Infertility AssociationInfertility · United States
You are more than your diagnosis
Perspectives from people navigating life with 49,XXXXY syndrome.
Explore research for 49,XXXXY syndrome
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- Eligibility is confirmed by the study team
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