Overview
Hernández-Aguirre Negrete syndrome is an extremely rare genetic condition that affects multiple body systems. It was first described in a Mexican family and is characterized by a combination of short stature, intellectual disability, distinctive facial features, and abnormalities of the hands and feet. People with this syndrome may have a round face, a broad nose, short fingers (brachydactyly), and delayed development of motor and cognitive skills. Some individuals also show hearing loss and dental abnormalities. Because this condition is so rare, with only a handful of cases reported in the medical literature, much about it remains poorly understood. There is currently no cure or specific treatment for this syndrome. Management focuses on addressing individual symptoms, such as speech therapy for language delays, special education support for learning difficulties, hearing aids if hearing loss is present, and orthopedic care for skeletal abnormalities. Early intervention with developmental therapies can help affected children reach their fullest potential. Families affected by this condition benefit from a team of specialists working together to provide comprehensive care.
Also known as:
Key symptoms:
Short statureIntellectual disabilityDelayed speech and language developmentRound face with distinctive facial featuresBroad or flat noseShort fingers and toesHearing lossDental abnormalitiesDelayed motor milestonesSkeletal abnormalities of the hands and feet
Clinical phenotype terms (10)— 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 Hernández-Aguirre Negrete syndrome.
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Specialists
View all specialists →No specialists are currently listed for Hernández-Aguirre Negrete syndrome.
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 Hernández-Aguirre Negrete syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 specific evaluations does my child need to fully assess their condition?,Should we pursue genetic testing such as whole exome sequencing to look for a cause?,What therapies (speech, occupational, physical) would benefit my child the most right now?,How often should my child's hearing be tested?,Are there any other conditions we should rule out that look similar?,What educational supports should I request from my child's school?,Is there any ongoing research or registry we can participate in?
Common questions about Hernández-Aguirre Negrete syndrome
What is Hernández-Aguirre Negrete syndrome?
Hernández-Aguirre Negrete syndrome is an extremely rare genetic condition that affects multiple body systems. It was first described in a Mexican family and is characterized by a combination of short stature, intellectual disability, distinctive facial features, and abnormalities of the hands and feet. People with this syndrome may have a round face, a broad nose, short fingers (brachydactyly), and delayed development of motor and cognitive skills. Some individuals also show hearing loss and dental abnormalities. Because this condition is so rare, with only a handful of cases reported in the m
How is Hernández-Aguirre Negrete syndrome inherited?
Hernández-Aguirre Negrete syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hernández-Aguirre Negrete syndrome typically begin?
Typical onset of Hernández-Aguirre Negrete syndrome is childhood. Age of onset can vary across affected individuals.