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Learn About Perlman Syndrome

What is the definition of Perlman Syndrome?
Perlman syndrome causes overgrowth in infancy and affects many different parts of the body. Babies with Perlman syndrome are bigger than most babies and have large heads, kidneys, and livers. In addition, they may have low muscle tone, distinctive facial features, and developmental delay. Over time, people with Perlman syndrome have an increased chance to develop Wilms tumor, a rare kidney cancer that primarily affects children. Perlman syndrome is caused by genetic changes (variants) in the DIS3L2 gene. It is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, a clinical exam, and may be confirmed by the results of genetic testing.
What are the alternative names for Perlman Syndrome?
  • Perlman syndrome
  • Nephroblastomatosis fetal ascites macrosomia and wilms tumor
  • Renal hamartomas, nephroblastomatosis, and fetal gigantism
Who are the top Perlman Syndrome Local Doctors?
Physician Assistant
Physician Assistant

Providence Medical Foundation

1950 Sunny Crest Dr, Suite 2900, 
Fullerton, CA 
 (31.6 mi)
Experience:
16+ years
Languages Spoken:
English
Offers Telehealth

Lisa Engelhardt is a Physician Assistant in Fullerton, California. Engelhardt has been practicing medicine for over 16 years and is rated as an Advanced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Marshall-Smith Syndrome, Hemi 3 Syndrome, Simpson-Golabi-Behmel Syndrome, and Megalencephaly-Capillary Malformation Syndrome.

Allergy and Immunology
Allergy and Immunology
1801 Marengo St Rm 1g1, 
Los Angeles, CA 
 (44.6 mi)
Languages Spoken:
English

Yat-choi Kwong is an Allergy and Immunologist in Los Angeles, California. Dr. Kwong and is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Hemi 3 Syndrome, Perlman Syndrome, Simpson-Golabi-Behmel Syndrome, and Megalencephaly-Capillary Malformation Syndrome.

 
 
 
 
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Rheumatology
Rheumatology

Eisenhower Medical Center

39950 Vista Del Sol, 
Rancho Mirage, CA 
 (63.9 mi)
Languages Spoken:
English
Offers Telehealth

Kam Newman is a Rheumatologist in Rancho Mirage, California. Dr. Newman and is rated as an Advanced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Calcium Pyrophosphate Arthritis, Polymyalgia Rheumatica, Rhizomelic Pseudopolyarthritis, and Rheumatoid Arthritis (RA).

What are the latest Perlman Syndrome Clinical Trials?
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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

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