Living with Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
A rare genetic syndrome with developmental delay, cloudy corneas, balance problems, and differences in the genitals, nipples and face.
Understanding Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
People have global developmental delay, intellectual disability, absent scrotum or labia majora, and absent or underdeveloped nipples. Both corneas are clouded, and facial differences include a small head. Shaky eye movements and an unsteady walk occur. Brain scans show a small cerebellum and pons. It is seen in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe intellectual disability
- Cloudy corneas
- Absent scrotum or labia majora
- Small cerebellum and pons
- Shaky eye movements (horizontal nystagmus)
- Balance problems and unsteady walk
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and urinary and male reproductive system specialists.
- 3Consider genetic testing
Changes in MAB21L1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Urinary and male reproductive system specialists (urologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the MAB21L1 gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome.
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