Charlie M Syndrome
Symptoms, Doctors, Treatments, Advances & More

Charlie M Syndrome Overview

Save information for later
Sign Up

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.
Not sure about your diagnosis?
Check Your Symptoms
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
Referral may be required
Genoa, IT 

Bernardo Bianchi practices practicing medicine in Genoa, Italy. Mr. Bianchi is rated as an Elite expert by MediFind in the treatment of Charlie M Syndrome. He is also highly rated in 4 other conditions, according to our data. His clinical expertise encompasses Facial Paralysis, Charlie M Syndrome, Moebius Syndrome, Osteotomy, and Nerve Decompression.

Elite in Charlie M Syndrome
Darren T. Oystreck
Elite in Charlie M Syndrome
Darren T. Oystreck
Referral may be required
Stellenbosch, WC, ZA 

Darren Oystreck practices practicing medicine in Stellenbosch, South Africa. Mr. Oystreck is rated as an Elite expert by MediFind in the treatment of Charlie M Syndrome. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Moebius Syndrome, Charlie M Syndrome, Duane-Radial Ray Syndrome, and Brown Syndrome.

 
 
 
 
Learn about our expert tiers
Learn More
Elite in Charlie M Syndrome
Jose E. Tarriba-Telich
Elite in Charlie M Syndrome
Jose E. Tarriba-Telich
Referral may be required
Mexico City, DIF, MX 

Jose Tarriba-Telich practices practicing medicine in Mexico City, Mexico. Mr. Tarriba-Telich is rated as an Elite expert by MediFind in the treatment of Charlie M Syndrome. He is also highly rated in 3 other conditions, according to our data. His clinical expertise encompasses Moebius Syndrome, Charlie M Syndrome, Facial Paralysis, Poland Syndrome, and Thrombectomy.

View All Doctors
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: February 11, 2026

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.

Match to trials
Find the right clinical trials for you in under a minute
Get started
View All Clinical Trials