Living with Chromosome Xp21 deletion syndrome
A missing piece of the X chromosome that usually affects males and can involve adrenal glands, muscles, and learning.
Understanding Chromosome Xp21 deletion syndrome
It can include complex glycerol kinase deficiency, congenital adrenal hypoplasia (underdeveloped adrenal glands), intellectual disability, and Duchenne muscular dystrophy. The features depend on the size of the deletion and the number and type of genes involved. GARD lists onset in the newborn period and infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Adrenal insufficiency
- Global developmental delay
- Slow growth
- Decreased muscle mass
- Crossed eyes (strabismus)
- Confusion
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 and hormone 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); Hormone specialists (endocrinologists)
- 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 it is caused by a missing piece (deletion) on the X chromosome at p21. The features depend on the deletion size and the genes involved.
Also known as: complex gkd; complex gkd (complex glycerol kinase deficiency); complex glycerol kinase deficiency; del(x)(p21); glycerol kinase deficiency-contiguous gene syndrome; monosomy xp21
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 Chromosome Xp21 deletion syndrome.
Explore research for Chromosome Xp21 deletion syndrome
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