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.
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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
Highly rated in
24
conditions

Friedrich Alexander Universität Erlangen Nürnberg

Erlangen, BY, DE 91054

Christiane Zweier is in Erlangen, Germany. Zweier is rated as an Elite expert by MediFind in the treatment of Borjeson-Forssman-Lehmann Syndrome. She is also highly rated in 24 other conditions, according to our data. Her top areas of expertise are Borjeson-Forssman-Lehmann Syndrome, Pitt-Hopkins Syndrome, Microcephaly, and Achalasia Microcephaly Syndrome.

Distinguished
Highly rated in
21
conditions

Institute For Clinical Genetics

Dresden, SN, DE 

Nataliya Di Donato is in Dresden, Germany. Di Donato is rated as a Distinguished expert by MediFind in the treatment of Borjeson-Forssman-Lehmann Syndrome. She is also highly rated in 21 other conditions, according to our data. Her top areas of expertise are Increased Head Circumference, Lissencephaly 1, Miller-Dieker Syndrome, and Subcortical Band Heterotopia.

 
 
 
 
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Distinguished
Highly rated in
6
conditions

Friedrich Alexander Universität Erlangen Nürnberg

Erlangen, BY, DE 

Juliane Hoyer is in Erlangen, Germany. Hoyer is rated as a Distinguished expert by MediFind in the treatment of Borjeson-Forssman-Lehmann Syndrome. She is also highly rated in 6 other conditions, according to our data. Her top areas of expertise are Borjeson-Forssman-Lehmann Syndrome, Camptodactyly Syndrome Guadalajara Type 1, Camptodactyly Taurinuria, and Camptodactyly Syndrome Guadalajara Type 2.

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Who are the sources who wrote this article ?

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

What are the Latest Advances for Borjeson-Forssman-Lehmann Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.