Perlman Syndrome (PRLMNS)
Perlman Syndrome (PRLMNS)
OMIM number: 267000
Comments closing date: 30/06/2025
Perlman syndrome is an overgrowth syndrome,
with affected children being born of large stature,
with low muscle tone and facial abnormalities.
Mortality is high with 50% of those affected dying
during the first month of life and less than 20%
surviving beyond 1 year of age. Those affected
are also at an increased risk of developing Wilms'
Tumours. These are cancerous tumours that
develop in the kidneys requiring treatment through
surgery and / or chemotherapy.
Review date: 28 May 2027
