Learn About Musculocontractural Ehlers-Danlos Syndrome

What is the definition of Musculocontractural Ehlers-Danlos Syndrome?
Adducted thumb and clubfoot syndrome (ATCS) is an autosomal recessive connective tissue disorder characterized by congenital malformations, contractures of thumbs and feet, a typical facial appearance, and normal cognitive development. This condition is caused by mutations in the CHST14 gene. 
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What are the alternative names for Musculocontractural Ehlers-Danlos Syndrome?
  • Autosomal recessive adducted thumb-club foot syndrome
  • Adducted thumb clubfoot syndrome
  • Musculocontractural EDS
  • mcEDS
  • Ehlers-Danlos syndrome, musculocontractural type
What are the symptoms of Musculocontractural Ehlers-Danlos Syndrome?
Adducted thumb-clubfoot syndrome is characterized by typical facial appearance, slight build, thin and translucent skin, severely adducted thumbs, arachnodactyly, clubfeet, joint instability, facial clefting, and coagulopathy, as well as heart, kidney, or intestinal defects. Severe psychomotor and developmental delay and decreased muscle tone may also be present during infancy. Cognitive development during childhood is normal. 
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Who are the top Musculocontractural Ehlers-Danlos Syndrome Local Doctors?
Distinguished
Highly rated in
24
conditions

Shinshu University School Of Medicine

Matsumoto, JP 

Tomoki Kosho is in Matsumoto, Japan. Kosho is rated as a Distinguished expert by MediFind in the treatment of Musculocontractural Ehlers-Danlos Syndrome. He is also highly rated in 24 other conditions, according to our data. His top areas of expertise are Coffin-Siris Syndrome, Miller Syndrome, Occipital Horn Syndrome, and Ehlers-Danlos Syndrome.

Distinguished
Highly rated in
23
conditions

Meijo University

Nagoya, JP 

Shuji Mizumoto is in Nagoya, Japan. Mizumoto is rated as a Distinguished expert by MediFind in the treatment of Musculocontractural Ehlers-Danlos Syndrome. He is also highly rated in 23 other conditions, according to our data. His top areas of expertise are Spondyloepimetaphyseal Dysplasia Joint Laxity, Occipital Horn Syndrome, Musculocontractural Ehlers-Danlos Syndrome, and Ehlers-Danlos Syndrome.

 
 
 
 
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Distinguished
Highly rated in
5
conditions
Neurosurgery

The Metropolitan Neurosurgery Group

Silver Spring, MD 

Fraser Henderson is a Neurosurgery doctor in Silver Spring, Maryland. Dr. Henderson has been practicing medicine for over 44 years and is rated as a Distinguished doctor by MediFind in the treatment of Musculocontractural Ehlers-Danlos Syndrome. He is also highly rated in 5 other conditions, according to our data. His top areas of expertise are Musculocontractural Ehlers-Danlos Syndrome, Vascular Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome, and Brittle Cornea Syndrome. He is board certified in Neurosurgery and licensed to treat patients in District of Columbia.

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What are the Latest Advances for Musculocontractural Ehlers-Danlos Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.