Question 1

What is Freeman-Sheldon syndrome?

Accepted Answer

Freeman-Sheldon syndrome is a very rare condition that affects many parts of the body. It is known for multiple congenital contractures, which means that people with this condition often have difficulties with joint movement. The syndrome is especially noticeable because it causes a small mouth with a whistling appearance and distinctive facial features.

In addition, people with Freeman-Sheldon syndrome typically experience club foot and joint contractures. This syndrome is recognized as the most severe form of distal arthrogryposis, a group of conditions that involve joint contractures at the distal parts of the limbs.

Question 2

What are the symptoms of Freeman-Sheldon syndrome?

Accepted Answer

Common symptoms of this condition include a small mouth with a whistling appearance, distinctive facial features, clubfoot, and joint contractures. These physical signs may vary in severity among people with the condition.

Question 3

What causes Freeman-Sheldon syndrome?

Accepted Answer

Freeman-Sheldon syndrome is caused by changes in a gene known as MYH3. These genetic changes affect the development of muscles and joints. This inherited mutation leads to the physical characteristics seen in the condition. Associated genes include MYH3.

Question 4

How is Freeman-Sheldon syndrome inherited?

Accepted Answer

Freeman-Sheldon syndrome follows an autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

Question 5

How rare is Freeman-Sheldon syndrome?

Accepted Answer

Freeman-Sheldon 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 Freeman-Sheldon syndrome diagnosed?

Accepted Answer

Information about diagnosis is currently limited for this condition.

Question 7

Are there treatments for Freeman-Sheldon syndrome?

Accepted Answer

Information about treatment is currently limited for this condition.

Question 8

What complications can arise from Freeman-Sheldon syndrome?

Accepted Answer

Freeman-Sheldon syndrome can lead to various complications due to joint contractures and other physical features. For example, difficulties with movement can affect daily activities and may require physical therapy. Additionally, the small mouth and distinctive facial features can impact feeding and speech development.

Question 9

How does Freeman-Sheldon syndrome affect daily life?

Accepted Answer

Living with Freeman-Sheldon syndrome can present challenges in daily life, especially due to joint contractures and clubfoot. Individuals may need assistance with mobility and may benefit from physical therapy to improve movement. It's important for families to work closely with healthcare providers to create a supportive environment.

Question 10

What is the life expectancy for someone with Freeman-Sheldon syndrome?

Accepted Answer

Currently, there is limited information about the life expectancy of individuals with Freeman-Sheldon syndrome. Because it is a rare condition, research on long-term outcomes is still ongoing. Families should consult with healthcare professionals for personalized information and support.

Question 11

Are there any specialists that should be involved in the care of someone with Freeman-Sheldon syndrome?

Accepted Answer

Yes, individuals with Freeman-Sheldon syndrome may benefit from a team of specialists. This can include orthopedic doctors for joint issues, speech therapists for communication difficulties, and physical therapists to aid in movement. Working with a team can help address the various needs associated with the syndrome.

Organ System	Phenotype Count	Example Features
Muscles	11	Hip contracture, Flexion contracture of finger, Muscle weakness
Bones and joints	8	Joint dislocation, Kyphoscoliosis, Arthralgia
Arms and legs	8	Flexion contracture of finger, Overlapping toe, Flexion contracture of toe
Brain and nerves	6	Seizure, Hypernasal speech, Hypoplasia of the brainstem
Head and neck	5	Cleft ala nasi, Microcephaly, Flat face
Growth and development	4	Postnatal growth retardation, Failure to thrive, Growth delay
Eyes	2	Strabismus, Ptosis
Ears	1	Hearing loss (hearing impairment)
Skin	1	Abnormality of the skin
Digestive system	1	Feeding difficulties in infancy
Pregnancy and birth	1	Decreased fetal movement
Lungs and breathing	1	Recurrent respiratory infections
Blood and immune system	1	Recurrent respiratory infections

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Freeman-Sheldon syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Freeman-Sheldon syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Freeman-Sheldon syndrome?

What are the symptoms of Freeman-Sheldon syndrome?

What causes Freeman-Sheldon syndrome?

How is Freeman-Sheldon syndrome inherited?

How rare is Freeman-Sheldon syndrome?

How is Freeman-Sheldon syndrome diagnosed?

Are there treatments for Freeman-Sheldon syndrome?

What complications can arise from Freeman-Sheldon syndrome?

How does Freeman-Sheldon syndrome affect daily life?

What is the life expectancy for someone with Freeman-Sheldon syndrome?

Are there any specialists that should be involved in the care of someone with Freeman-Sheldon syndrome?