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Living with CAMOS syndrome

A rare genetic syndrome with unsteadiness from birth, severe intellectual disability, and optic nerve damage.

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Understanding CAMOS syndrome

CAMOS syndrome is a rare condition with ataxia (unsteady movement) from birth that does not worsen, severe intellectual disability, optic atrophy, and blood vessel differences in the skin.

It was described in five children from a large family from Lebanon. Short stature and a small head were also reported. Signs start in newborns and infants.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

  • Unsteady movement (ataxia)
  • Severe intellectual disability
  • Optic nerve damage (optic atrophy)
  • Small head (microcephaly)
  • Seizures
  • Low muscle tone and stiffness

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include brain and nervous system specialists, eye disease specialists and genetic specialists.

  3. Consider genetic testing

    Changes in WDR73 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.

  4. Connect with expert centers

    National Ataxia Foundation may keep lists of experts for this condition.

Care & treatment

Care team
Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
Expert care
Expert lists: National Ataxia Foundation
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 National Ataxia Foundation
  • 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
Bring these questions to your next doctor visit
Can WDR73 gene testing confirm the diagnosis?
How should the kidneys be monitored?
Which therapies can support movement and learning?

Quick facts

Symptoms usually startNewborn and as an Infant
InheritanceAutosomal Recessive
GenesWDR73

Changes in the WDR73 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.

GeneticNeurological

Also known as: camos (cerebellar ataxia, mental retardation, optic atrophy, skin abnormalities) syndrome; cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome; cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome; scar5; scar5 - spinocerebellar ataxia autosomal recessive 5

Patient organizations

Broader rare-disease groups

Source: NIH GARD · CAMOS syndromeGARD ID 9977 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with CAMOS syndrome.

Explore the CAMOS syndrome blog
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9 Things to Know After Diagnosis

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The Invisible Job: What Caregiving for a Rare Disease Really Looks Like

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Broader resource

Embrace the Ask: How to Seek The Support You Need

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Explore research for CAMOS syndrome

Explore actively recruiting CAMOS syndrome studies with HealthSpark.

HealthSpark

Find actively recruiting studies for CAMOS syndrome with HealthSpark. Share your city to explore research near you.

  • Recruiting studies from ClinicalTrials.gov
  • Share your city to look for research near you
  • Eligibility is confirmed by the study team

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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