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Health library/Joubert syndrome

Rare developmental disorders / RARE CONDITION

Joubert syndrome

Also known as: Cerebellooculorenal disorder, Cerebellooculorenal syndrome 1, Cerebelloparenchymal disorder, CORS, CPD, Familial aplasia of the vermis

Joubert syndrome affects formation of brain structures important for coordination and breathing control. Eye, kidney or liver involvement differs between affected people.

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What you may notice

Symptoms can overlap with other conditions and vary between people.

  • Low muscle tone
  • Delayed development
  • Poor coordination
  • Abnormal breathing or eye movements

Understanding care

Clinical care may include genetic and brain assessment with individualized organ and developmental monitoring. A qualified clinician decides which investigations and options fit the individual situation.

When to seek help

Loss of skills or worsening movement needs prompt specialist review. New seizures, serious swallowing or breathing difficulty, or reduced consciousness requires urgent emergency care.

For severe breathing difficulty, collapse, suspected stroke, or another emergency, call local emergency services immediately. In India, call 112.

Read the medical sources

These sources support the educational article and offer more detail.

Educational reading · Updated 6 October 2026

Prepared from the linked sources. This summary has not had an independent clinician review. A qualified clinician can assess symptoms and explain which information applies to you.

A child and a caring grown-up reading a picture book together

LITTLE PEOPLE. BIG FEELINGS.

It’s okay to have
a lot of questions.

A doctor visit or an unfamiliar health word can feel scary. You can ask a trusted grown-up to help you understand, one small question at a time.

01

Say how you feel.

“I feel worried” is a good place to start.

02

Ask for simple words.

“Can you explain that in a way I understand?”

03

Bring someone you trust.

A caring adult can help you ask and listen.

For children and their grown-ups. This illustration explains a conversation, not a diagnosis. An adult should seek qualified care for a child who is unwell.

Joubert syndrome — First AID health library