Living with Intellectual disability, Buenos-Aires type
A rare syndrome with slow growth, small head, developmental delay, intellectual disability, and differences in several organs.
Understanding Intellectual disability, Buenos-Aires type
It also includes developmental and speech delay and differences in several organs, such as the heart and urinary tract. Other reported features include thick skin on the palms and soles, fluid buildup in the brain (hydrocephalus), and webbed toes. It is present from birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability and developmental delay
- Speech disorder
- Slow growth and small head
- Heart wall differences (septal defect)
- Differences in fingernails and teeth
- Differences in the skull and pelvic bones
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 rare disease patient organizations for support
- 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 doesn't describe a cause for this condition yet.
Also known as: intellectual developmental disorder, buenos aires type; intellectual disability buenos aires type; mutchinick syndrome
Patient organizations
Rare-disease groups that can help
- 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 Intellectual disability, Buenos-Aires type.
Explore research for Intellectual disability, Buenos-Aires type
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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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