Overview
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome is an extremely rare genetic condition that affects multiple parts of the body from birth. The name describes its main features: absent or underdeveloped genital tissue (labioscrotal agenesis), structural problems in the cerebellum (the part of the brain that controls balance and coordination), clouding of the clear front surface of the eye (corneal dystrophy), and distinctive facial features that differ from typical appearance. This condition is sometimes referred to by its Orphanet code ORPHA:495875, and no widely used short name or acronym has been established yet due to its rarity. Because this syndrome affects the brain, eyes, genitals, and face all at once, it is considered a multi-system condition. Children born with this syndrome may have difficulty with balance and movement due to the cerebellar changes, vision problems due to corneal clouding, and differences in genital development that may require medical or surgical attention. Facial features may include unusual spacing of the eyes, ear shape differences, or other subtle changes that a specialist can recognize. Very few cases have been reported in the medical literature, which means our understanding of the full range of symptoms, long-term outlook, and best treatments is still developing. Management focuses on treating each symptom as it arises, with a team of specialists working together to support the child and family.
Also known as:
Key symptoms:
Absent or underdeveloped scrotal or labial tissue (genital differences present at birth)Structural abnormalities of the cerebellum (the balance and coordination center of the brain)Clouding or scarring of the cornea (the clear front part of the eye)Distinctive facial features such as unusual eye spacing or ear shapeBalance and coordination difficultiesPossible intellectual disability or developmental delaysVision problems due to corneal changesDifferences in genital anatomy that may affect urinary or reproductive function
Clinical phenotype terms (50)— 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 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome.
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Specialists
View all specialists →No specialists are currently listed for Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism 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 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism 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
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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 genetic tests should we do to confirm the diagnosis and find the gene responsible?,How often should my child's eyes be examined, and what treatments are available for the corneal changes?,What therapies do you recommend to help with balance and coordination?,What specialists should be part of my child's care team, and how do we coordinate between them?,What is the chance that future children could be affected, and should other family members be tested?,Are there any patient registries or research studies we can join to help advance understanding of this condition?,What early intervention or school support services should we apply for right away?
Common questions about Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
What is Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome?
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome is an extremely rare genetic condition that affects multiple parts of the body from birth. The name describes its main features: absent or underdeveloped genital tissue (labioscrotal agenesis), structural problems in the cerebellum (the part of the brain that controls balance and coordination), clouding of the clear front surface of the eye (corneal dystrophy), and distinctive facial features that differ from typical appearance. This condition is sometimes referred to by its Orphanet code ORP
How is Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome inherited?
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome typically begin?
Typical onset of Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome is neonatal. Age of onset can vary across affected individuals.