Pyle DiseaseSymptoms, Doctors, Treatments, Advances & More
Pyle Disease Overview
Learn About Pyle Disease
Pyle disease is a disorder of the bones. Its hallmark feature is an abnormality of the long bones in the arms and legs in which the ends (metaphyses) of the bones are abnormally broad; the shape of the bones resembles a boat oar or paddle. The broad metaphyses are due to enlargement of the spongy inner layer of bone (trabecular bone). Although trabecular bone is expanded, the dense outermost layer of bone (cortical bone) is thinner than normal. As a result, the bones are fragile and fracture easily. The bone abnormalities in the legs commonly cause knock knees (genu valgum) in affected individuals.
Pyle disease is caused by mutations in the SFRP4 gene. This gene provides instructions for making a protein that blocks (inhibits) a process called Wnt signaling, which is involved in the development of several tissues and organs throughout the body. In particular, regulation of Wnt signaling by the SFRP4 protein is critical for normal bone development and remodeling. Bone remodeling is a normal process in which old bone is broken down and new bone is created to replace it. Mutations in the SFRP4 gene are thought to prevent the production of functional SFRP4 protein. The resulting dysregulation of Wnt signaling leads to the bone abnormalities characteristic of Pyle disease.
Pyle disease is thought to be a rare disorder, although its prevalence is unknown. More than 25 cases have been described in the medical literature.
Pyle disease is inherited in an autosomal recessive pattern, which means both copies of the SFRP4 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene. While they do not develop the condition, they may have mild abnormalities of the long bones.
Katta Girisha practices practicing medicine in Manipala, India. Girisha is rated as an Elite expert by MediFind in the treatment of Pyle Disease. They are also highly rated in 77 other conditions, according to our data. Their clinical expertise encompasses Pyle Disease, Brachydactyly Mononen Type, Arthrogryposis Multiplex Congenita, and Congenital Contractures.
UC Irvine Medical Center
Dr. Eric J. Vilain is a board-certified UCI Health pediatrician who specializes in genetic and genomic medicine.Vilain serves as associate vice chancellor for clinical and translational research and scientific affairs for the Susan and Henry Samueli College of Health Sciences and director of the Institute for Clinical and Translational Sciences at UC Irvine.He received his medical degree at the Faculté de Médecine Paris-Descartes and a doctor of Philosophy degree in genetics from the Université Pierre-et-Marie-Curie in Paris, France. Next. he completed residencies in general pediatrics and pediatric endocrinology at the Necker-Enfants Malades Hospital, followed by a residency in pediatric medical genetics and a fellowship at clinical biochemical genetics at the David Geffen School of Medicine at UCLA, where he went on to serve as a faculty member, physician and prolific genetics researcher for two decades.Before joining the UCI School of Medicine and the College of Health Sciences, he most recently worked at the Children's National Medical Center in Washington, D.C., where he served as director of the Center for Genetic Medicine Research and was the A. James Clark Distinguished Professor of Molecular Genetics.Vilain's clinical and research emphasis has long been on differences of sex development and medical genetics.He sees patients atUCI Medical Centerin Orange. Dr. Vilain is rated as an Elite provider by MediFind in the treatment of Pyle Disease. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Pyle Disease, Intersex, Beckwith-Wiedemann Syndrome, Hypospadias, and Orchiectomy. Dr. Vilain is board certified in American Board Of Medical Genetics And Genomics - Clinical Genetics And Genomics.
Geert Mortier practices practicing medicine in Leuven, Belgium. Mortier is rated as an Elite expert by MediFind in the treatment of Pyle Disease. They are also highly rated in 35 other conditions, according to our data. Their clinical expertise encompasses Pyle Disease, Brachydactyly Mononen Type, Multiple Epiphyseal Dysplasia, and Chondrodystrophy.
Summary: The goal of this registry is to collect information on individuals with forms of microcephalic primordial dwarfism as well as related conditions. The study team hopes to learn more about these conditions and improve the care of people with them by establishing this registry.
Published Date: March 01, 2017
Published By: National Institutes of Health