3M Syndrome
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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?
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.

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, Polydactyly, Brachydactyly Mononen Type, and Adenoidectomy.

 
 
 
 
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Distinguished in 3M Syndrome
Peter E. Clayton
Distinguished in 3M Syndrome
Peter E. Clayton
Oxford Road, 
Manchester, ENG, GB 

Peter Clayton practices in Manchester, United Kingdom. Mr. Clayton is rated as a Distinguished expert by MediFind in the treatment of 3M Syndrome. His top areas of expertise are Growth Hormone Deficiency (GHD), Pediatric Growth Hormone Deficiency, Turner Syndrome, Congenital Hyperinsulinism, and Hormone Replacement Therapy (HRT).

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