Costello Syndrome Overview
Learn About Costello Syndrome
View Main Condition: RASopathies
Costello syndrome is a rare disorder that affects many parts of the body. This condition is characterized by delayed development, loose folds of skin (which are especially noticeable on the hands and feet), unusually flexible joints, heart problems, short stature, and distinctive facial features.
Variants (also called mutations) in the HRAS gene cause Costello syndrome. This gene provides instructions for making a protein called H-Ras, which is part of a pathway that helps control cell growth and division. Variants that cause Costello syndrome lead to the production of an H-Ras protein that is abnormally turned on (active). The overactive protein directs cells to grow and divide constantly, which can lead to the development of tumors. It is unclear how variants in the HRAS gene cause the other features of Costello syndrome, but many of the signs and symptoms probably result from cell overgrowth and abnormal cell division.
This condition is very rare; it probably affects 100 to 1,500 people worldwide. The estimates of Costello syndrome prevalence range from 1 in 300,000 to 1 in 1.25 million people.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases of this condition result from new (de novo) variants in the gene that occur during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or in early embryonic development. These affected individuals have no history of the disorder in their family.
Central Ohio Primary Care Physicians, Inc.
Blase Hennessy is an Internal Medicine provider in Columbus, Ohio. Dr. Hennessy has been practicing medicine for over 14 years and is rated as an Experienced provider by MediFind in the treatment of Costello Syndrome. His top areas of expertise are Gastrointestinal Bleeding, Sepsis, Necrosis, Endoscopy, and Hip Replacement. Dr. Hennessy is currently accepting new patients.
Dermatologists Of Southwest Ohio - Riverside
Radhika Nakrani is a Dermatologist in Columbus, Ohio. Dr. Nakrani and is rated as an Experienced provider by MediFind in the treatment of Costello Syndrome. Her top areas of expertise are Neurocutaneous Melanosis, Giant Congenital Melanocytic Nevus, Giant Congenital Nevus, and Familial Atypical Multiple Mole Melanoma Syndrome. Dr. Nakrani is currently accepting new patients.
Osu Internal Medicine LLC
Claire Verschraegen is an Oncologist and a Hematologist Oncology provider in Columbus, Ohio. Dr. Verschraegen and is rated as an Experienced provider by MediFind in the treatment of Costello Syndrome. Her top areas of expertise are Neuroendocrine Tumor, Merkel Cell Carcinoma, Melanoma, and Anaplastic Thyroid Cancer. Dr. Verschraegen is currently accepting new patients.
Background: RASopathies are a group of genetic diseases that affect a child s development. They cause physical, cognitive, and behavioral symptoms. Caring for a child with a RASopathy can be stressful. Acceptance and Commitment Therapy (ACT) is a therapy that helps people become more aware and accepting of difficult thoughts and feelings. ACT has been found to be helpful for parents with high parenting stress...
Background: RASopathies are a group of conditions caused by a genetic change. People with a RASopathy may have developmental issues, cognitive disability, poor growth, and birth defects. They may also have an increased risk for developing cancer. Researchers want to learn more.
Published Date: September 05, 2023
Published By: National Institutes of Health