Living with 1q44 microdeletion syndrome
A newly described genetic condition that can bring delayed speech, seizures, low muscle tone, and distinct facial features.
Understanding 1q44 microdeletion syndrome
People with this condition have distinct facial features and developmental delay, especially in expressive speech. Seizures and low muscle tone (hypotonia) can occur. GARD also lists a smaller head, slower growth, and differences in the heart wall and brain. GARD lists onset as the newborn and infant period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Global developmental delay
- Delayed speech and language
- Generalized seizures (tonic-clonic)
- Low muscle tone (hypotonia)
- Small head size (microcephaly)
- Short stature
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. The summary describes it as a missing piece (microdeletion) of chromosome 1.
Also known as: del(1)(q44); monosomy 1q44
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 1q44 microdeletion syndrome.
Explore research for 1q44 microdeletion syndrome
Explore actively recruiting 1q44 microdeletion syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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