Living with 2p21 microdeletion syndrome
A rare genetic condition that can bring kidney stones, seizures, low muscle tone, and severe delays in growth and development.
Understanding 2p21 microdeletion syndrome
It consists of cystinuria (a kidney and urine condition), seizures in newborns, low muscle tone (hypotonia), severe growth and developmental delay, and distinct facial features. Lactic acidemia (extra lactic acid in the blood) is also part of it. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Low muscle tone (hypotonia)
- Global developmental delay
- Slow growth
- Kidney stones
- Low hormone activity from the gonads
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 kidney 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); Kidney specialists (nephrologists)
- 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 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 is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: 2p21 deletion syndrome; del(2)(p21); monosomy 2p21
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with 2p21 microdeletion syndrome.
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