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.
UPMC Primary Care
Khyati Kadia, MD, specializes in family medicine and is certified by the American Board of Family Medicine. She practices at Altoona Family Physicians and is affiliated with UPMC Altoona. She completed her residency at University of Illinois College of Medicine at Rockford and medical degree at Windsor University School of Medicine. Dr. Kadia is rated as an Advanced provider by MediFind in the treatment of Rapadilino Syndrome. Her top areas of expertise are Kenny-Caffey Syndrome Type 2, Campomelic Dysplasia, Winchester Syndrome, and Russell-Silver Dwarfism.
Promedica Central Physicians
Mohammad El Sayyad is a primary care provider, practicing in Family Medicine in Maumee, Ohio. Dr. El Sayyad is rated as an Experienced provider by MediFind in the treatment of Rapadilino Syndrome. His top areas of expertise are Multisystem Inflammatory Syndrome in Children (MIS-C), COVID-19, Lung Metastases, Gastrostomy, and Endoscopy. Dr. El Sayyad is currently accepting new patients.
Seton Family Of Doctors
Mary Cishek is a Cardiologist and an Advanced Heart Failure and Transplant Cardiologist in Austin, Texas. Dr. Cishek is rated as an Experienced provider by MediFind in the treatment of Rapadilino Syndrome. Her top areas of expertise are Cardiomyopathy, Dilated Cardiomyopathy (DCM), Heart Failure, Heart Transplant, and Patent Foramen Ovale Repair. Dr. Cishek is currently accepting new patients.
Published Date: August 01, 2013
Published By: National Institutes of Health