Living with Xp22.3 microdeletion syndrome
A rare chromosome condition caused by a missing piece of the X chromosome, with features that vary a lot between people.
Understanding Xp22.3 microdeletion syndrome
GARD says features can include X-linked ichthyosis (dry, scaly skin), mild to moderate intellectual disability, Kallmann syndrome, short stature, chondrodysplasia punctata (a bone growth condition) and ocular albinism. Epilepsy, ADHD, autism and social communication difficulties can also occur. Onset is listed at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature
- Nearsightedness (myopia)
- Clouding of the cornea
- Low sex hormones (hypogonadotropic hypogonadism)
- Decreased fertility
- Missing or small eye or skin areas
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.
Care & treatment
- Care team
- 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 Chromosome Disorder Outreach
- 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 this condition results from a partial deletion (missing piece) of the X chromosome. It doesn't name a single gene.
Also known as: chromosome xp22.3 microdeletion syndrome; del(x)(p23)
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
Broader rare-disease groups
- 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 Xp22.3 microdeletion syndrome.
Explore research for Xp22.3 microdeletion syndrome
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