3M Syndrome Overview

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Learn About 3M Syndrome

What is the definition of 3M Syndrome?
3M syndrome is a growth disorder that causes short stature, characteristic facial features, and skeletal abnormalities. Intelligence is normal. The name comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux. 3M syndrome is caused by genetic changes in one of three genes: CUL7, OBSL1, and CCDC8. It is inherited in an autosomal recessive pattern. Diagnosis is based on the presence of clinical features. Genetic testing can confirm the diagnosis and identify the specific gene involved.
What are the alternative names for 3M Syndrome?
  • 3M syndrome
  • 3-M syndrome
  • 3-MSBN
  • 3M1
  • Dolichospondylic dysplasia
  • Gloomy face syndrome
  • Le Merrer syndrome
  • Three M syndrome
  • Three-M slender-boned nanism
  • Yakut short stature syndrome
Who are the top 3M Syndrome Local Doctors?
Experienced in 3M Syndrome
Dr. Erin L. Clements
Internal Medicine
Experienced in 3M Syndrome
Dr. Erin L. Clements
Internal Medicine

Wk Academic Medicine Clinic

2751 Albert L Bicknell Dr, Suite 2d, 
Shreveport, LA 
318-212-4232
Languages Spoken:
English
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Accepting New Patients

Erin Clements is a primary care provider, practicing in Internal Medicine in Shreveport, Louisiana. Dr. Clements is rated as an Experienced provider by MediFind in the treatment of 3M Syndrome. Her top areas of expertise are Hypothyroidism, High Cholesterol, Glucocorticoid-Remediable Aldosteronism, and Hypertension. Dr. Clements is currently accepting new patients.

Distinguished in 3M Syndrome
Pelin O. Kiper-Simsek
Distinguished in 3M Syndrome
Pelin O. Kiper-Simsek
Ankara, TR 

Pelin Kiper-Simsek practices in Ankara, Turkey. Ms. Kiper-Simsek is rated as a Distinguished expert by MediFind in the treatment of 3M Syndrome. Her top areas of expertise are Chondrodystrophy, Schwartz-Jampel Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, and Brachydactyly Mononen Type.

 
 
 
 
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Distinguished in 3M Syndrome
Valerie Daire-Cormier
Distinguished in 3M Syndrome
Valerie Daire-Cormier
Paris, FR 

Valerie Daire-Cormier practices in Paris, France. Ms. Daire-Cormier is rated as a Distinguished expert by MediFind in the treatment of 3M Syndrome. Her top areas of expertise are Myhre Syndrome, Achondroplasia, Brachydactyly Mononen Type, Polydactyly, and Adenoidectomy.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center