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

Pelin Kiper-Simsek practices practicing medicine in Ankara, Turkey. Ms. Kiper-Simsek is rated as an Elite expert by MediFind in the treatment of 3M Syndrome. She is also highly rated in 58 other conditions, according to our data. Her clinical expertise encompasses Chondrodystrophy, Schwartz-Jampel Syndrome, X-Linked Spondyloepiphyseal Dysplasia Tarda, and 3M Syndrome.

Distinguished in 3M Syndrome
Meliksah Z. Keskin
Distinguished in 3M Syndrome
Meliksah Z. Keskin
Etlik, TR 

Meliksah Keskin practices practicing medicine in Etlik, Turkey. Mr. Keskin is rated as a Distinguished expert by MediFind in the treatment of 3M Syndrome. He is also highly rated in 10 other conditions, according to our data. His clinical expertise encompasses 3M Syndrome, Precocious Puberty, Congenital Hypothyroidism, Parathyroidectomy, and Hormone Replacement Therapy (HRT).

 
 
 
 
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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 practicing medicine in Manchester, United Kingdom. Mr. Clayton is rated as a Distinguished expert by MediFind in the treatment of 3M Syndrome. He is also highly rated in 18 other conditions, according to our data. His clinical expertise encompasses 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