Osteoporosis-Pseudoglioma SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Osteoporosis-Pseudoglioma Syndrome
Osteoporosis-pseudoglioma syndrome is a rare condition characterized by severe thinning of the bones (osteoporosis) and eye abnormalities that lead to vision loss. In people with this condition, osteoporosis is usually recognized in early childhood. It is caused by a shortage of minerals, such as calcium, in bones (decreased bone mineral density), which makes the bones brittle and prone to fracture. Affected individuals often have multiple bone fractures, including in the bones that form the spine (vertebrae). Multiple fractures can cause collapse of the affected vertebrae (compressed vertebrae), abnormal side-to-side curvature of the spine (scoliosis), short stature, and limb deformities. Decreased bone mineral density can also cause softening or thinning of the skull (craniotabes).
Osteoporosis-pseudoglioma syndrome is caused by mutations in the LRP5 gene. This gene provides instructions for making a protein that participates in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the LRP5 protein helps regulate bone mineral density and plays a critical role in development of the retina.
Osteoporosis-pseudoglioma syndrome is a rare disorder that occurs in approximately 1 in 2 million people.
Osteoporosis-pseudoglioma syndrome is inherited in an autosomal recessive pattern, which means both copies of the LRP5 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. However, some carriers may have decreased bone mineral density.
Elizabeth Streeten is an Endocrinologist and a Medical Genetics provider practicing medicine in Baltimore, Maryland. Dr. Streeten is rated as an Elite provider by MediFind in the treatment of Osteoporosis-Pseudoglioma Syndrome. She is also highly rated in 15 other conditions, according to our data. Her clinical expertise encompasses Osteoporosis-Pseudoglioma Syndrome, Osteoporosis, Gaucher Disease, and Gaucher Disease Type 2.
Division Of Endocrinology
Christina Jacobsen is a Pediatric Endocrinologist practicing medicine in Boston, Massachusetts. Dr. Jacobsen is rated as an Elite provider by MediFind in the treatment of Osteoporosis-Pseudoglioma Syndrome. She is also highly rated in 14 other conditions, according to our data. Her clinical expertise encompasses Osteoporosis-Pseudoglioma Syndrome, Osteogenesis Imperfecta, Cranioectodermal Dysplasia, and Lateral Meningocele Syndrome.
Nemours Children's Hospital, Delaware
I’m a radiologist at the Nemours/Alfred I. duPont Hospital for Children, Wilmington, and I also interpret medical images for children who visit other Nemours facilities in Delaware Valley and Florida. I enjoy radiology because I can focus on the interesting puzzle of diagnosis and also work collaboratively with referring physicians. I’m married and have two young sons. Pediatric radiology allows me to interact and connect with my patients at a greater level than adult practice. And working with different specialists in a pediatric setting makes it a joy to provide the highest quality and most technologically advanced care. I’m passionate about helping kids get better with the least amount pain or life disruption. It’s personally fulfilling to make a diagnosis that saves a child from an unnecessary or painful procedure. My father, who was a physician, was a great role model. He was caring, smart, and made a difference by helping his patients live healthier and more productive lives. I’m privileged to also have this opportunity. Dr. Averill is rated as a Distinguished provider by MediFind in the treatment of Osteoporosis-Pseudoglioma Syndrome. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Osteoporosis-Pseudoglioma Syndrome, Brachydactyly Mononen Type, Pectus Carinatum, Gastrostomy, and Liver Embolization. Dr. Averill is board certified in American Board Of Radiology.
Published Date: January 01, 2013
Published By: National Institutes of Health