Living with Emanuel syndrome
A chromosome condition with low muscle tone, slow weight gain, significant developmental delay, a small head, and distinct facial features.
Understanding Emanuel syndrome
Infants have weak muscle tone and don't gain weight and grow as expected. Development is significantly delayed, and most people have severe to profound intellectual disability. Other features include a small head, distinctive facial features, a small lower jaw, small pits in front of the ears, and a cleft or high palate in about half. Males often have genital differences. Heart and kidney differences can also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Poor weight gain and feeding difficulties
- Delays in speech and development
- Cleft or high palate
- Hip dislocation at birth
- Acid reflux and constipation
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 digestive system specialists, genetic specialists and heart and blood vessel specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists)
- 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. It describes it as a chromosomal condition.
Also known as: der(22) syndrome due to 3:1 meiotic disjunction events; der(22)t(11; 22) syndrome; supernumerary der(22) syndrome; supernumerary der(22)t(11; supernumerary der(22)t(11
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 Emanuel syndrome.
Explore research for Emanuel syndrome
Explore actively recruiting Emanuel syndrome studies with HealthSpark.
Find actively recruiting studies for Emanuel syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- 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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