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.
Jennifer Miller is a Pediatrics specialist and an Endocrinologist in Gainesville, Florida. Dr. Miller has been practicing medicine for over 24 years and is rated as a Distinguished doctor by MediFind in the treatment of Rapadilino Syndrome. She is also highly rated in 32 other conditions, according to our data. Her top areas of expertise are Boomerang Dysplasia, Campomelic Dysplasia, Craniofrontonasal Dysplasia, and Osteoglophonic Dysplasia. She is licensed to treat patients in Florida. Dr. Miller is currently accepting new patients.
Michael Tansey is an Endocrinologist and a Pediatrics doctor in Iowa City, Iowa. Dr. Tansey has been practicing medicine for over 27 years and is rated as an Advanced doctor by MediFind in the treatment of Rapadilino Syndrome. He is also highly rated in 34 other conditions, according to our data. His top areas of expertise are Prader-Willi Syndrome, Boomerang Dysplasia, Hypoparathyroidism-Intellectual Disability-Dysmorphism Syndrome, and Dubowitz Syndrome. He is licensed to treat patients in Iowa. Dr. Tansey is currently accepting new patients.
Gilbert Fareau is an Endocrinologist in Wauwatosa, Wisconsin. Dr. Fareau has been practicing medicine for over 23 years and is rated as an Advanced doctor by MediFind in the treatment of Rapadilino Syndrome. He is also highly rated in 79 other conditions, according to our data. His top areas of expertise are Papillary Thyroid Cancer, Thyroid Cancer, Medullary Thyroid Carcinoma, and Anaplastic Thyroid Cancer. He is licensed to treat patients in Wisconsin. Dr. Fareau is currently accepting new patients.
Published Date: August 01, 2013Published By: National Institutes of Health
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