Rapadilino SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Rapadilino Syndrome
RAPADILINO syndrome is a rare condition that involves many parts of the body. Bone development is especially affected, causing many of the characteristic features of the condition.
Mutations in the RECQL4 gene cause RAPADILINO syndrome. This gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) DNA in preparation for cell division and for repairing damaged DNA. The RECQL4 protein helps stabilize genetic information in the body's cells and plays a role in replicating and repairing DNA.
RAPADILINO syndrome is a rare condition, although its worldwide prevalence is unknown. The condition was first identified in Finland, where it affects an estimated 1 in 75,000 individuals, although it has since been found in other regions.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Access Health & Avera Medical Group Family Health Center — Mitchell
Dr. Jon Olegario is an internal medicine physician at Avera Medical Group Internal Medicine Mitchell. Dr. Olegario is rated as an Advanced provider by MediFind in the treatment of Rapadilino Syndrome. He is also highly rated in 51 other conditions, according to our data. His clinical expertise encompasses High Cholesterol, Sitosterolemia, Renovascular Hypertension, and Chronic Cough. Dr. Olegario is board certified in American Board Of Internal Medicine.
OSF Medical Group - Primary Care
Justin Holschbach is a primary care provider, practicing in Family Medicine in Bloomington, Illinois. Dr. Holschbach is rated as an Advanced provider by MediFind in the treatment of Rapadilino Syndrome. He is also highly rated in 45 other conditions, according to our data. His clinical expertise encompasses Low Sodium Level, Peptic Ulcer, Necrosis, and Colorectal Cancer. Dr. Holschbach is board certified in American Board Of Family Medicine.
Tufts Medical Center
Ronald Lechan is an Endocrinologist practicing medicine in Boston, Massachusetts. Dr. Lechan is rated as a Distinguished provider by MediFind in the treatment of Rapadilino Syndrome. He is also highly rated in 85 other conditions, according to our data. His clinical expertise encompasses Pituitary Tumor, Prolactinoma, Cockayne Syndrome, and Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome.
Published Date: August 01, 2013
Published By: National Institutes of Health