21

What is Freeman Sheldon Syndrome

Freeman Sheldon Syndrome description. Find out what Freeman Sheldon Syndrome is and know more about it.

What is Freeman Sheldon Syndrome

Freeman Sheldon Syndrome, also known as distal arthrogryposis type 2A, is a rare genetic disorder that affects multiple parts of the body. It is characterized by a combination of facial abnormalities, joint contractures, and muscle weakness.



Facial abnormalities: Individuals with Freeman Sheldon Syndrome often have a distinctive facial appearance, including a small mouth with pursed lips, a prominent forehead, a flat nasal bridge, and a small jaw.



Joint contractures: Joint contractures refer to the limited range of motion in certain joints. In Freeman Sheldon Syndrome, these contractures primarily affect the hands and feet, causing them to be fixed in a bent or flexed position.



Muscle weakness: People with this syndrome may experience muscle weakness, particularly in the face and limbs. This can lead to difficulties with swallowing, speaking, and performing fine motor tasks.



Freeman Sheldon Syndrome is caused by mutations in specific genes involved in muscle development. It is typically diagnosed based on clinical features and genetic testing. Treatment focuses on managing the symptoms and may include physical therapy, speech therapy, and surgical interventions to improve joint function.


Diseasemaps
1 answer

What is Freeman Sheldon Syndrome

Freeman Sheldon Syndrome life expectancy

What is the life expectancy of someone with Freeman Sheldon Syndrome?

3 answers
Celebrities with Freeman Sheldon Syndrome

Celebrities with Freeman Sheldon Syndrome

1 answer
Is Freeman Sheldon Syndrome hereditary?

Is Freeman Sheldon Syndrome hereditary?

4 answers
Is Freeman Sheldon Syndrome contagious?

Is Freeman Sheldon Syndrome contagious?

3 answers
Natural treatment of Freeman Sheldon Syndrome

Is there any natural treatment for Freeman Sheldon Syndrome?

1 answer
ICD9 and ICD10 codes of Freeman Sheldon Syndrome

ICD10 code of Freeman Sheldon Syndrome and ICD9 code

2 answers
Living with Freeman Sheldon Syndrome

Living with Freeman Sheldon Syndrome. How to live with Freeman Sheldon Synd...

2 answers
Freeman Sheldon Syndrome diet

Freeman Sheldon Syndrome diet. Is there a diet which improves the quality o...

2 answers

World map of Freeman Sheldon Syndrome

Find people with Freeman Sheldon Syndrome through the map. Connect with them and share experiences. Join the Freeman Sheldon Syndrome community.

Stories of Freeman Sheldon Syndrome

FREEMAN SHELDON SYNDROME STORIES
Freeman Sheldon Syndrome stories
I am 58yo female affected for 58 yrs. Second generation and one of 7 in multi-generational family. Father, myself, sisters, daughter, 2 nephews and 2 great-nephews. One of the sister's doesn't have as bad a symptoms and she had one child with it and ...
Freeman Sheldon Syndrome stories
I am Quanh, 21 years old. I didn't discover Freeman Syndrome until genetic test this year 2021. I really would like to reach our to other people, how do they deal with life and hearing advices from others. Good luck with your journey. Below is my p...
Freeman Sheldon Syndrome stories
My paternal grandfather apparently had it. It was said that before he died his mouth opening was so narrow that he couldn't get a spoon past his teeth. My father had it. He couldn't open his mouth very wide (although that didn't stop him from over...

Tell your story and help others

Tell my story

Freeman Sheldon Syndrome forum

FREEMAN SHELDON SYNDROME FORUM

Ask a question and get answers from other users.

Ask a question

Find your symptoms soulmates

From now on you can add your symptoms in diseasemaps and find your symptoms soulmates. Symptoms soulmates are people with similar symptoms to you.

Symptoms soulmates

Add your symptoms and discover your soulmates map

Soulmates map