Living with Paternal 20q13.2q13.3 microdeletion syndrome
A rare genetic condition with slow growth before and after birth, a small head, and feeding trouble.
Understanding Paternal 20q13.2q13.3 microdeletion syndrome
Babies grow slowly before and after birth and have a small head, low muscle tone, and ongoing feeding difficulties. Development is mildly delayed. Certain facial features are also seen. Signs begin during pregnancy and in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth before and after birth
- Small head (microcephaly)
- Feeding difficulties
- Low muscle tone (hypotonia)
- Delays in development
- Small lower jaw (micrognathia)
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
Changes in the genes (also called variants) cause this condition. It is caused by a microdeletion, a missing piece of chromosome 20 from the father's side.
Also known as: paternal 20q13.2-q13.3 microdeletion syndrome; paternal del(20)(q13.2q13.3); paternal monosomy 20q13.2-q13.3; paternal monosomy 20q13.2q13.3
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 Paternal 20q13.2q13.3 microdeletion syndrome.
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