Joubert Syndrome | aidanz-house

What Is Joubert Syndrome?

Joubert Syndrome is a rare genetic condition that affects the cerebellum, the part of the brain that controls balance and coordination. It can also impact vision, breathing, growth, and overall development. Occurring in about 1 in every 80,000–100,000 births—less than 0.001% of babies—this condition is often undiagnosed, underdiagnosed, or misdiagnosed, especially in Black families and families of color. At Aidan’z House, we are committed to raising awareness, sharing resources, and building understanding so that every family has access to the care, advocacy, and opportunities they deserve.

Learn more about JS below

Black families often face delays in diagnosis for rare conditions. We are committed to raising awareness about Joubert Syndrome among Black families and families of color.

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Joubert Syndrome (pronounced zhoo-BARE sin-drome) was discovered in 1969 by Canadian neurologist Dr. Marie Joubert, who identified it in siblings with unusual breathing patterns and developmental delays. Today, it is most commonly recognized through MRI scans that show a unique brain feature called the “molar tooth sign,” which reflects changes in the cerebellum and brainstem. This discovery has helped doctors better diagnose the condition and connect families with the support they need. (Joubert, 1969; MedlinePlus Genetics, 2023)

History of Joubert Syndrome

How

Rare

Is It?

Joubert Syndrome occurs in about 1 in every 80,000–100,000 births — less than 0.001% of babies.

Because it is so rare and symptoms vary, many children may be undiagnosed, underdiagnosed, or misdiagnosed.

Based on population numbers, about 500–600 Black individuals in the U.S. may live with Joubert syndrome, though the real number may be higher.
(MedlinePlus Genetics, GeneReviews, Orphanet)

Every child is different, but common signs include:

Hypotonia - Low muscle tone
Developmental delays/ Intellectual de (sitting, walking, or talking may take longer)
Breathing differences as an infant (fast breathing or short pauses)
Eye movement differences or vision challenges
Balance and coordination problems
In some children: kidney, liver, or vision problems

What Families Might Notice.

Joubert Syndrome and Neurodivergence

Joubert Syndrome is a rare genetic and neurological condition. While it is not usually listed under “neurodivergent” conditions like Autism or ADHD, some individuals with JS may experience learning or developmental differences that connect them with the wider neurodivergent community.

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What Is Joubert Syndrome?

Black families often face delays in diagnosis for rare conditions. We are committed to raising awareness about Joubert Syndrome among Black families and families of color.

History of Joubert Syndrome

How

Rare

Is It?

Joubert Syndrome occurs in about 1 in every 80,000–100,000 births — less than 0.001% of babies.

​

Because it is so rare and symptoms vary, many children may be undiagnosed, underdiagnosed, or misdiagnosed.

​

Based on population numbers, about 500–600 Black individuals in the U.S. may live with Joubert syndrome, though the real number may be higher. (MedlinePlus Genetics, GeneReviews, Orphanet)

​​​

Every child is different, but common signs include:

​

Hypotonia - Low muscle tone

Developmental delays/ Intellectual de (sitting, walking, or talking may take longer)​

Breathing differences as an infant (fast breathing or short pauses)​

Eye movement differences or vision challenges​

Balance and coordination problems

In some children: kidney, liver, or vision problems

What Families Might Notice.

Joubert Syndrome and Neurodivergence

​ Joubert Syndrome is a rare genetic and neurological condition. While it is not usually listed under “neurodivergent” conditions like Autism or ADHD, some individuals with JS may experience learning or developmental differences that connect them with the wider neurodivergent community.

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Based on population numbers, about 500–600 Black individuals in the U.S. may live with Joubert syndrome, though the real number may be higher.
(MedlinePlus Genetics, GeneReviews, Orphanet)

Developmental delays/ Intellectual de (sitting, walking, or talking may take longer)

Breathing differences as an infant (fast breathing or short pauses)

Eye movement differences or vision challenges

Joubert Syndrome is a rare genetic and neurological condition. While it is not usually listed under “neurodivergent” conditions like Autism or ADHD, some individuals with JS may experience learning or developmental differences that connect them with the wider neurodivergent community.