Living with Distal monosomy 7q36
A rare chromosome condition with a wide range of effects on brain development, growth, the face, and other body parts.
Understanding Distal monosomy 7q36
Effects vary widely. A key feature can be holoprosencephaly, in which the brain does not divide fully into two halves. Other features include slow growth, delayed development, and facial differences such as clefts. Fingers, eyes, and genitals may be affected. Heart conditions have occasionally been reported. Signs begin during pregnancy or at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Holoprosencephaly (brain not fully divided)
- Small head size (microcephaly)
- Cleft palate
- Seizures
- Low muscle tone (hypotonia)
- 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
GARD says changes in a person's genes cause this condition. The summary describes it as a partial loss of the long arm of chromosome 7.
Also known as: distal deletion 7q36; distal monosomy 7q36 syndrome; distal monosomy type 7q36; monosomy 7qter; telomeric deletion 7q36
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 Distal monosomy 7q36.
Explore research for Distal monosomy 7q36
Explore actively recruiting Distal monosomy 7q36 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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