Charlie M Syndrome Overview

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Learn About Charlie M Syndrome

What is the definition of Charlie M Syndrome?
Charlie M syndrome is a rare genetic disorder that affects bone development and is characterized by birth defects of underdevelopment and malformations of the mouth, jaw, and limbs. While the cause of this syndrome is unknown, some researchers believe it may be an inherited x-linked genetic trait or the result of an interaction of several genes. The disorder is also associated with suspected environmental or other factor causes.
What are the symptoms of Charlie M Syndrome?
Characteristics of Charlie M syndrome include abnormal fingernails and toenails, short fingers or toes, wide-set eyes, large ears, a broad nasal bridge, a small lower jaw, lip, and mouth, decreased number of teeth, claw hands, abnormality of the long bone of hand, and finger-like thumbs.
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What are the current treatments for Charlie M Syndrome?
There is currently no known treatment for Charlie M syndrome.
Who are the top Charlie M Syndrome Local Doctors?
Elite in Charlie M Syndrome
Bernardo Bianchi
Elite in Charlie M Syndrome
Bernardo Bianchi
Genoa, IT 

Bernardo Bianchi practices in Genoa, Italy. Mr. Bianchi is rated as an Elite expert by MediFind in the treatment of Charlie M Syndrome. His top areas of expertise are Facial Paralysis, Charlie M Syndrome, Moebius Syndrome, Osteotomy, and Endovascular Embolization.

Elite in Charlie M Syndrome
Darren T. Oystreck
Elite in Charlie M Syndrome
Darren T. Oystreck
Stellenbosch, WC, ZA 

Darren Oystreck practices in Stellenbosch, South Africa. Mr. Oystreck is rated as an Elite expert by MediFind in the treatment of Charlie M Syndrome. His top areas of expertise are Moebius Syndrome, Charlie M Syndrome, Duane-Radial Ray Syndrome, and Brown Syndrome.

 
 
 
 
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Distinguished in Charlie M Syndrome
Jose E. Tarriba-Telich
Distinguished in Charlie M Syndrome
Jose E. Tarriba-Telich
Mexico City, DIF, MX 

Jose Tarriba-Telich practices in Mexico City, Mexico. Mr. Tarriba-Telich is rated as a Distinguished expert by MediFind in the treatment of Charlie M Syndrome. His top areas of expertise are Charlie M Syndrome, Moebius Syndrome, Facial Paralysis, Poland Syndrome, and Thrombectomy.

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What are the latest Charlie M Syndrome Clinical Trials?
Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies
Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies
Enrollment Status: Recruiting
Publish Date: November 09, 2023

Summary: The purpose of this study is to identify genes associated with impaired development and function of the cranial nerves and brainstem, which may result in misalignment of the eyes (strabismus) and related conditions.

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