Living with Chromosome 1q41-q42 deletion syndrome
A small missing piece of chromosome 1 with a wide range of effects, including feeding trouble, delayed speech, and intellectual disability.
Understanding Chromosome 1q41-q42 deletion syndrome
People range from mildly to severely affected. Features may include poor feeding in infancy, developmental delay with delayed or absent speech, and moderate to severe intellectual disability. Others include low muscle tone, short stature, seizures, heart defects, brain differences, cleft palate, vision problems, and hearing loss. GARD lists onset in the newborn period and infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Behavior differences
- Clubfoot
- Deep-set eyes
- Frontal bossing
- Depressed nasal bridge
- Broad nasal tip and full lips
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 Families for HoPE 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 it is caused by a small missing piece (deletion) on the long arm of chromosome 1, usually spanning several genes.
Also known as: 1q41-q42 microdeletion syndrome; 1q41q42 microdeletion syndrome; chromosome 1, monosomy 1q4; chromosome 1q41-q42 deletion syndrome, isolated cases; del(1)(q41q42); deletion 1q4
Patient organizations
- Families for HoPEChromosome 1q41-q42 deletion syndrome · United States
- Chromosome Disorder OutreachChromosome disorders · United States
You are more than your diagnosis
Perspectives from people navigating life with Chromosome 1q41-q42 deletion syndrome.
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