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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?
Justin E. Decoux
Advanced in Perlman Syndrome
Nurse Practitioner
Advanced in Perlman Syndrome
Nurse Practitioner

Texas Health Family Care

1217 Oakland Blvd., 
Fort Worth, TX 
Experience:
10+ years
Languages Spoken:
English

Justin Decoux is a Nurse Practitioner in Fort Worth, Texas. Mr. Decoux has been practicing medicine for over 10 years and is rated as an Advanced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Hemi 3 Syndrome, Simpson-Golabi-Behmel Syndrome, Megalencephaly-Capillary Malformation Syndrome, and Perlman Syndrome.

Marcela I. Popescu
Experienced in Perlman Syndrome
Hematology | Oncology
Experienced in Perlman Syndrome
Hematology | Oncology

ETSU Pediatrics- St. Jude's Clinic

400 N State Of Franklin Rd, Fl 1, 
Johnson City, TN 
Languages Spoken:
English
Offers Telehealth

. Dr. Popescu is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Hereditary Spherocytosis, Von Willebrand Disease (VWD), Evans Syndrome, and Hemophilic Arthropathy.

 
 
 
 
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Stefanie A. Kienker
Experienced in Perlman Syndrome
Nurse Practitioner | Pediatrics
Experienced in Perlman Syndrome
Nurse Practitioner | Pediatrics

Atrium Health Levine Children's Sleep Medicine

4501 Cameron Valley Parkway, Suite 300, 
Charlotte, NC 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Stefanie Kienker is a Pediatrics specialist and a Nurse Practitioner in Charlotte, North Carolina. Ms. Kienker is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. Her top areas of expertise are Perlman Syndrome, Hemi 3 Syndrome, Megalencephaly-Capillary Malformation Syndrome, and Cantu Syndrome. Ms. Kienker is currently accepting new patients.

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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 Perlman Syndrome?
Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene
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Perlman syndrome research progress