Living with Kleefstra syndrome
A genetic condition with developmental delay, little or no speech, low muscle tone, and distinctive facial features.
Understanding Kleefstra syndrome
People have limited or no speech and low muscle tone. Distinctive features include a small, wide head and facial differences such as eyebrows that meet in the middle and a large tongue. Some have structural brain differences, heart defects, urinary and genital differences, seizures, or frequent respiratory infections. Features of autism may appear in childhood, and apathy or unresponsiveness (catatonia) may appear in the teens. It is noticed in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay
- Intellectual disability
- Delayed or absent speech
- Low muscle tone
- Small head (microcephaly)
- Autism-like behaviors
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 brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); 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 IDefine 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 changes in genes (also called variants) cause this condition. It is autosomal dominant, meaning one changed copy of the gene is enough to cause it.
Also known as: 9q subtelomeric deletion syndrome; 9q- syndrome; 9q-syndrome; 9q34 deletion syndrome; 9q34.3 microdeletion syndrome; chromosome 9q deletion syndrome
Patient organizations
- IDefineKleefstra syndrome · United States
- Chromosome Disorder OutreachKleefstra syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Kleefstra syndrome.
Explore research for Kleefstra syndrome
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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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