Perlman Syndrome
Symptoms, Doctors, Treatments, Advances & More

Save information for later
Sign Up

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?
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. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Hereditary Spherocytosis, Von Willebrand Disease (VWD), Evans Syndrome, and Hemophilic Arthropathy. Dr. Popescu is board certified in American Board Of Pediatrics.

Experienced in Perlman Syndrome
Experienced in Perlman Syndrome

St. Christopher's Pediatric Associates Radiology - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
Languages Spoken:
English

. Dr. Contrucci is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Tracheobronchopathia Osteoplastica, Scoliosis, Short Stature (Growth Disorders), and Idiopathic Short Stature (ISS). Dr. Contrucci is board certified in American Board Of Radiology.

 
 
 
 
Learn about our expert tiers
Learn More
Experienced in Perlman Syndrome
Experienced in Perlman Syndrome

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd, 
Johnson City, TN 
Languages Spoken:
English

. Dr. Gibson is rated as an Experienced provider by MediFind in the treatment of Perlman Syndrome. She is also highly rated in 1 other condition, according to our data. Her clinical expertise encompasses Obesity in Children, Delayed Growth, Autism Spectrum Disorder, and Diarrhea. Dr. Gibson is board certified in American Board Of Pediatrics.

What are the latest Perlman Syndrome Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
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
Tired of the same old research?
Check Latest Advances
Perlman syndrome research progress