Borjeson-Forssman-Lehmann Syndrome Overview

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Learn About Borjeson-Forssman-Lehmann Syndrome

What is the definition of Borjeson-Forssman-Lehmann Syndrome?
Borjeson-Forssman-Lehmann syndrome (BFLS) is a genetic condition characterized by intellectual disability, obesity, seizures, hypogonadism, developmental delay and distinctive facial features. These symptoms are variable, even among members of the same family. BFLS is caused by genetic changes in the PHF6 gene on the X chromosome. This genetic change is usually transmitted as an X-linked recessive trait, which means the disorder is fully expressed predominantly in males.
What are the alternative names for Borjeson-Forssman-Lehmann Syndrome?
  • Borjeson-Forssman-Lehmann syndrome
  • BFLS
  • BORJ
  • Borjeson Syndrome
  • Intellectual deficiency-epilepsy-endocrine disorders syndrome
  • Intellectual disability-epilepsy-endocrine disorders syndrome
  • Mental deficiency, epilepsy and endocrine disorders
Who are the top Borjeson-Forssman-Lehmann Syndrome Local Doctors?
Elite in Borjeson-Forssman-Lehmann Syndrome
Christiane Zweier
Elite in Borjeson-Forssman-Lehmann Syndrome
Christiane Zweier
Erlangen, BY, DE 

Christiane Zweier practices in Erlangen, Germany. Ms. Zweier is rated as an Elite expert by MediFind in the treatment of Borjeson-Forssman-Lehmann Syndrome. Her top areas of expertise are Borjeson-Forssman-Lehmann Syndrome, Achalasia Microcephaly Syndrome, Microcephaly, and Pitt-Hopkins Syndrome.

Experienced in Borjeson-Forssman-Lehmann Syndrome
Dr. Jennifer A. Jonkers
Internal Medicine
Experienced in Borjeson-Forssman-Lehmann Syndrome
Dr. Jennifer A. Jonkers
Internal Medicine

Abingdon Internal Medicine

322 East Valley Street, 
Abingdon, VA 
276-628-1106
Languages Spoken:
English
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. Dr. Jonkers is rated as an Experienced provider by MediFind in the treatment of Borjeson-Forssman-Lehmann Syndrome. Her top areas of expertise are Lung Metastases, Cirrhosis, Familial Combined Hyperlipidemia, and Xanthoma.

 
 
 
 
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Heinrich Sticht
Distinguished in Borjeson-Forssman-Lehmann Syndrome
Heinrich Sticht
Distinguished in Borjeson-Forssman-Lehmann Syndrome
Heinrich Sticht
Erlangen, BY, DE 

Heinrich Sticht practices in Erlangen, Germany. Mr. Sticht is rated as a Distinguished expert by MediFind in the treatment of Borjeson-Forssman-Lehmann Syndrome. His top areas of expertise are Achalasia Microcephaly Syndrome, Microcephaly, Cytomegalovirus Infection, and Short Stature (Growth Disorders).

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