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.
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. His top areas of expertise are Low Sodium Level, Peptic Ulcer, Necrosis, and Colorectal Cancer.
BHMA Inpatient Services- JCCH
. Dr. Shine is rated as an Experienced provider by MediFind in the treatment of Rapadilino Syndrome. His top areas of expertise are Langer Mesomelic Dysplasia, Robinow Syndrome, Coffin-Siris Syndrome, and Camptodactyly Syndrome Guadalajara Type 1.
Doctor's Approach Dermatology & Laser Center PC
Dana Fletcher is an Endocrinologist in East Lansing, Michigan. Dr. Fletcher is rated as an Advanced provider by MediFind in the treatment of Rapadilino Syndrome. Her top areas of expertise are Hypothyroidism, Obesity in Children, Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), and SHORT Syndrome.
Published Date: August 01, 2013
Published By: National Institutes of Health