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.

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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Ashley P. Gaines
Advanced in Borjeson-Forssman-Lehmann Syndrome
Dr. Ashley P. Gaines
Internal Medicine
Advanced in Borjeson-Forssman-Lehmann Syndrome
Dr. Ashley P. Gaines
Internal Medicine

Atrium Health Primary Care Ardsley Internal Medicine

5427 Hwy 49 S., Suite 102, 
Harrisburg, NC 
704-454-7360
Languages Spoken:
English
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Accepting New Patients

Ashley Gaines is a primary care provider, practicing in Internal Medicine in Harrisburg, North Carolina. Dr. Gaines is rated as an Advanced provider by MediFind in the treatment of Borjeson-Forssman-Lehmann Syndrome. His top areas of expertise are Macroamylasemia, Childhood Iron Deficiency Anemia, Chronic Cough, and Anemia. Dr. Gaines is currently accepting new patients.

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