Living with 2p21 microdeletion syndrome without cystinuria
A rare genetic condition that can bring weak muscle tone and feeding trouble in infancy, plus delayed development.
Understanding 2p21 microdeletion syndrome without cystinuria
Babies may have weak movements before birth and very low muscle tone (hypotonia) with feeding difficulties that improve with time. Other features include urinary and genital differences, global developmental delay, and mild intellectual disability. Distinct facial features are also part of it. Blood lactate may be slightly high, but there is no cystinuria. GARD lists onset as the newborn and infant period.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these features:
- Weak movements before birth
- Very low muscle tone in infancy
- Feeding difficulties that improve with time
- Urinary and genital differences
- Global developmental delay
- Mild intellectual disability
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 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: del(2)(p21) without cystinuria
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 2p21 microdeletion syndrome without cystinuria.
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