Living with Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
A very rare syndrome present from birth with eye, brain, thyroid, and windpipe differences and developmental delay.
Understanding Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
The eye difference is called an anterior chamber cleavage disorder. Other features can include a small cerebellum (part of the brain), a narrowed windpipe, a narrow ear canal, and hip dislocation. GARD notes there have been no further descriptions in the medical literature since 1995.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underactive thyroid (hypothyroidism)
- Intellectual disability
- Low muscle tone (hypotonia)
- Narrowed windpipe (tracheal stenosis)
- Small cerebellum (cerebellar hypoplasia)
- Frequent breathing infections
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 eye disease specialists, genetic specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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
GARD says changes in genes (also called variants) cause this syndrome. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: jung 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 Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis.
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