Overview
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome is an extremely rare genetic condition that affects multiple body systems. This disorder is characterized by a combination of poor growth, delays in reaching developmental milestones (such as sitting, walking, and talking), low muscle tone (hypotonia), problems with vision, and a buildup of lactic acid in the blood (lactic acidosis). The lactic acidosis occurs because the body's cells have trouble producing energy properly, which is related to problems in how mitochondria — the energy-producing parts of cells — function. Children with this condition typically show signs early in life, including failure to thrive, floppy muscles, and difficulty with motor skills. Vision problems can range from poor visual acuity to more significant impairment. The buildup of lactic acid in the blood can cause episodes of metabolic crisis, especially during illness or stress. There is currently no cure for this syndrome. Treatment focuses on managing symptoms and supporting the child's development. This may include physical therapy, occupational therapy, nutritional support, and careful monitoring of metabolic status. Because this condition involves energy metabolism, avoiding prolonged fasting and managing illness promptly are important parts of care. The condition is classified under ICD-10 code E88.8, which covers other specified metabolic disorders.
Key symptoms:
Poor growth or failure to thriveDelayed developmental milestonesLow muscle tone (floppy muscles)Vision problems or vision lossHigh lactic acid levels in the bloodFeeding difficultiesIntellectual disabilityDelayed speech and languageDifficulty with movement and coordinationEpisodes of metabolic crisisFatigue and low energySeizures in some casesShort stature
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
2 eventsSogroya: FDA approved
Treatment of pediatric patients aged 2.5 years and older who have growth failure due to inadequate secretion of endogenous growth hormone (GH)
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableSogroya
Treatment of pediatric patients aged 2.5 years and older who have growth failure due to inadequate secretion of endogenous growth hormone (GH)
Clinical Trials
View all trials with filters →No actively recruiting trials found for Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for Growth and developmental delay-hypotonia-vision impairment-lactic acidosis 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
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to Growth and developmental delay-hypotonia-vision impairment-lactic acidosis 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 is the specific genetic cause of my child's condition, and has genetic testing been completed?,What therapies and interventions should we start right away?,How can we prevent or manage metabolic crises at home?,Are there any supplements or medications that might help my child's energy production?,What should we do if my child becomes sick — is there an emergency protocol?,How often should my child have eye exams and developmental assessments?,Are there any clinical trials or research studies my child might be eligible for?
Common questions about Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
What is Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome?
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome is an extremely rare genetic condition that affects multiple body systems. This disorder is characterized by a combination of poor growth, delays in reaching developmental milestones (such as sitting, walking, and talking), low muscle tone (hypotonia), problems with vision, and a buildup of lactic acid in the blood (lactic acidosis). The lactic acidosis occurs because the body's cells have trouble producing energy properly, which is related to problems in how mitochondria — the energy-producing parts of cells —
How is Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome inherited?
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome typically begin?
Typical onset of Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome is infantile. Age of onset can vary across affected individuals.