Overview
Cataract-aberrant oral frenula-growth delay syndrome is an extremely rare genetic condition that affects several parts of the body. It is sometimes referred to by its Orphanet designation (ORPHA:1373). The hallmark features of this syndrome include cataracts (clouding of the lens of the eye that can impair vision), abnormal oral frenula (the small folds of tissue in the mouth that connect the lips, cheeks, or tongue to the gums are unusually shaped, positioned, or overly prominent), and growth delay (children grow more slowly than expected in height and/or weight). Some affected individuals may also have intellectual disability or developmental delays, and additional physical features may be present depending on the case. Because this syndrome is so rare, with only a handful of cases described in the medical literature, our understanding of its full range of symptoms and its underlying genetic cause remains limited. Diagnosis is typically made based on the combination of clinical features, as no single genetic test has been definitively established for this condition. Treatment is supportive and symptom-based. Cataracts may be treated surgically, growth delay may be monitored and managed by an endocrinologist, and developmental support services can help children reach their full potential. Dental and oral specialists may also be involved to address the abnormal frenula. Because so few patients have been identified, there is no established cure, and management focuses on improving quality of life and addressing each symptom individually.
Also known as:
Key symptoms:
Cataracts (cloudy lenses in the eyes)Abnormal frenula in the mouth (unusual tissue folds connecting lips or tongue to gums)Growth delay or short statureDevelopmental delayIntellectual disabilityLow birth weightFeeding difficulties in infancyDental abnormalitiesDelayed motor milestonesFailure to thrive
Clinical phenotype terms (10)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Cataract-aberrant oral frenula-growth delay syndrome.
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Specialists
View all specialists →No specialists are currently listed for Cataract-aberrant oral frenula-growth delay 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 Cataract-aberrant oral frenula-growth delay syndrome.
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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 is the severity of my child's cataracts, and when should surgery be considered?,Are there any genetic tests that could help identify the exact cause of this condition?,What therapies or early intervention services do you recommend for developmental delays?,Should the abnormal oral frenula be surgically corrected, and if so, when?,How often should my child's growth be monitored, and are there treatments for growth delay?,What is the recurrence risk if we plan to have more children?,Are there any research studies or registries we should consider joining?
Common questions about Cataract-aberrant oral frenula-growth delay syndrome
What is Cataract-aberrant oral frenula-growth delay syndrome?
Cataract-aberrant oral frenula-growth delay syndrome is an extremely rare genetic condition that affects several parts of the body. It is sometimes referred to by its Orphanet designation (ORPHA:1373). The hallmark features of this syndrome include cataracts (clouding of the lens of the eye that can impair vision), abnormal oral frenula (the small folds of tissue in the mouth that connect the lips, cheeks, or tongue to the gums are unusually shaped, positioned, or overly prominent), and growth delay (children grow more slowly than expected in height and/or weight). Some affected individuals ma
How is Cataract-aberrant oral frenula-growth delay syndrome inherited?
Cataract-aberrant oral frenula-growth delay syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cataract-aberrant oral frenula-growth delay syndrome typically begin?
Typical onset of Cataract-aberrant oral frenula-growth delay syndrome is neonatal. Age of onset can vary across affected individuals.