Question 1

What is Harel-Yoon syndrome?

Accepted Answer

Harel-Yoon syndrome is a neurodevelopmental disorder that affects several aspects of development. It is characterized by delayed psychomotor development, meaning that children with this condition may learn to move and perform tasks later than usual. Intellectual disability is also reported, which can impact learning and everyday skills.

Other features of this condition include truncal hypotonia (reduced muscle tone in the trunk), spasticity (stiff or tight muscles), and peripheral neuropathy, which affects nerves outside the brain and spinal cord. This summary is based on a formal definition that outlines the core characteristics of the syndrome.

Question 2

What are the symptoms of Harel-Yoon syndrome?

Accepted Answer

People with Harel-Yoon syndrome often experience delayed psychomotor development and intellectual disability. They may also present with truncal hypotonia, which means reduced muscle tone in the central parts of the body, as well as spasticity and peripheral neuropathy. These symptoms can affect movement and overall muscle control.

Question 3

What causes Harel-Yoon syndrome?

Accepted Answer

Harel-Yoon syndrome is linked to changes in a gene known as ATAD3A. This gene is important for proper cell function, especially in the brain and nerves. Since the condition has a genetic basis, it is inherited and may run in families. Understanding more about gene changes can help in explaining why this condition develops. Associated genes include ATAD3A.

Question 4

How is Harel-Yoon syndrome inherited?

Accepted Answer

Harel-Yoon syndrome follows an autosomal recessive and autosomal dominant inheritance pattern. This means a child must inherit a copy of the altered gene from both parents to develop the condition. Parents who each carry one copy typically do not show symptoms.

Question 5

How rare is Harel-Yoon syndrome?

Accepted Answer

Harel-Yoon syndrome is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

Question 6

How is Harel-Yoon syndrome diagnosed?

Accepted Answer

Information about diagnosis is currently limited for this condition.

Question 7

Are there treatments for Harel-Yoon syndrome?

Accepted Answer

Information about treatment is currently limited for this condition.

Question 8

What complications can arise from Harel-Yoon syndrome?

Accepted Answer

Harel-Yoon syndrome can lead to several complications due to its symptoms. Children may struggle with movement and coordination because of truncal hypotonia and spasticity. Additionally, peripheral neuropathy can affect their ability to feel sensations, which may lead to further challenges in daily activities.

Question 9

How does Harel-Yoon syndrome affect daily life for patients and their families?

Accepted Answer

Living with Harel-Yoon syndrome can be challenging for both patients and their families. Delayed psychomotor development and intellectual disability may require extra support in learning and everyday tasks. Families may need to adapt their routines and seek therapies to help their loved ones develop skills and improve their quality of life.

Question 10

What is the life expectancy for someone with Harel-Yoon syndrome?

Accepted Answer

Currently, there is limited information about the life expectancy of individuals with Harel-Yoon syndrome. Since this condition affects development and can lead to various complications, it is important for families to work closely with healthcare providers to monitor health and address any issues that arise.

Question 11

What specialists should families consult for Harel-Yoon syndrome?

Accepted Answer

Families dealing with Harel-Yoon syndrome may benefit from consulting several specialists. A pediatric neurologist can help manage neurological symptoms, while a physical therapist can assist with movement and muscle control. Additionally, a developmental specialist can provide guidance on learning strategies and support for intellectual disabilities.

Research Type	Count	% of Total
Laboratory research	21	31%

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Harel-Yoon syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

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GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

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Harel-Yoon syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Harel-Yoon syndrome?

What are the symptoms of Harel-Yoon syndrome?

What causes Harel-Yoon syndrome?

How is Harel-Yoon syndrome inherited?

How rare is Harel-Yoon syndrome?

How is Harel-Yoon syndrome diagnosed?

Are there treatments for Harel-Yoon syndrome?

What complications can arise from Harel-Yoon syndrome?

How does Harel-Yoon syndrome affect daily life for patients and their families?

What is the life expectancy for someone with Harel-Yoon syndrome?

What specialists should families consult for Harel-Yoon syndrome?

Explore clinical features

Recent Publications