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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?
Advanced in Perlman Syndrome
Family Medicine | Internal Medicine
Advanced in Perlman Syndrome
Family Medicine | Internal Medicine
407 S Main St, 
Viroqua, WI 
Languages Spoken:
English

James Feltes is a primary care provider, practicing in Family Medicine and Internal Medicine in Viroqua, Wisconsin. Dr. Feltes is rated as an Advanced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are Cantu Syndrome, Simpson-Golabi-Behmel Syndrome, Megalencephaly-Capillary Malformation Syndrome, and Hemi 3 Syndrome.

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 Marshall-Smith Syndrome, Simpson-Golabi-Behmel Syndrome, Cantu Syndrome, and Perlman Syndrome. Ms. Kienker is currently accepting new patients.

 
 
 
 
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Majd Makhoul
Experienced in Perlman Syndrome
Pediatric Cardiology
Experienced in Perlman Syndrome
Pediatric Cardiology

Atrium Health Levine Children's HEARTest Yard Congenital Heart Center

1001 Blythe Blvd., Suite 500, 
Charlotte, NC 
Languages Spoken:
English
Accepting New Patients

Majd Makhoul is a Pediatric Cardiologist in Charlotte, North Carolina. Dr. Makhoul is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. His top areas of expertise are X-Linked Cardiac Valvular Dysplasia, Cardiac Diverticulum, Congenital Heart Disease (CHD), and Congenital Mitral Malformation. Dr. Makhoul 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