Overview
Intellectual disability, Buenos Aires type is an extremely rare genetic condition first described in families from Buenos Aires, Argentina. This syndrome is characterized by intellectual disability (ranging from mild to moderate), along with distinctive facial features and other physical findings. Affected individuals may have a flat facial profile, a broad nasal bridge, short nose, and other subtle differences in facial appearance. Some patients also show short stature and skeletal abnormalities. The intellectual disability typically becomes apparent in early childhood when developmental milestones such as speech and learning are delayed compared to peers. Because this condition is so rare, with only a handful of cases reported in the medical literature, much remains unknown about its full range of symptoms and long-term outlook. There is currently no cure or specific treatment for this condition. Management focuses on supportive care, including special education programs, speech therapy, occupational therapy, and physical therapy to help affected individuals reach their full potential. Early intervention services are considered important for improving developmental outcomes. Families affected by this condition benefit from working closely with a team of specialists who can address the various aspects of the syndrome.
Also known as:
Key symptoms:
Intellectual disability (mild to moderate)Delayed speech and language developmentDistinctive facial featuresFlat facial profileBroad nasal bridgeShort noseShort statureDelayed developmental milestonesLearning difficultiesSkeletal abnormalities
Clinical phenotype terms (30)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Intellectual disability, Buenos-Aires type.
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Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Intellectual disability, Buenos-Aires type.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What level of intellectual disability does my child have, and what does that mean for their future?,What therapies should we start right away, and how often should they occur?,Is genetic testing available that could confirm this diagnosis or identify the specific gene involved?,Are there any other medical issues we should screen for as part of this condition?,What educational supports and services is my child entitled to?,How often should we have follow-up evaluations to track development?,Are there any research studies or registries we can participate in?
Common questions about Intellectual disability, Buenos-Aires type
What is Intellectual disability, Buenos-Aires type?
Intellectual disability, Buenos Aires type is an extremely rare genetic condition first described in families from Buenos Aires, Argentina. This syndrome is characterized by intellectual disability (ranging from mild to moderate), along with distinctive facial features and other physical findings. Affected individuals may have a flat facial profile, a broad nasal bridge, short nose, and other subtle differences in facial appearance. Some patients also show short stature and skeletal abnormalities. The intellectual disability typically becomes apparent in early childhood when developmental mile
How is Intellectual disability, Buenos-Aires type inherited?
Intellectual disability, Buenos-Aires type follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Intellectual disability, Buenos-Aires type typically begin?
Typical onset of Intellectual disability, Buenos-Aires type is childhood. Age of onset can vary across affected individuals.
Which specialists treat Intellectual disability, Buenos-Aires type?
3 specialists and care centers treating Intellectual disability, Buenos-Aires type are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.