Perlman syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Perlman syndrome

Synonyms: Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome

Perlman syndrome is characterized principally by polyhydramnios neonatal macrosomia bilateral renal tumours (hamartomas with or without nephroblastomatosis) hypertrophy of the islets of Langerhans and facial dysmorphism.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

Newly diagnosed with
Perlman syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Cache DNA

At Cache, we are on a mission to store the biomolecules of today in order to unlock the possibilities of tomorrow. Our vision is to create a scalable, sustainable, and standardized platform for reliable storage and access of biomolecules by combining chemistry, biology, automation, and computational tools to support patient advocacy groups worldwide and better connect samples to insights.

Clinical Trials

For a list of clinical trials in this disease area, please click here.