Campomelic DysplasiaSymptoms, Doctors, Treatments, Advances & More
Learn About Campomelic Dysplasia
Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. This condition is often life-threatening in the newborn period.
Mutations in or near the SOX9 gene cause campomelic dysplasia. This gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. The SOX9 protein regulates the activity of other genes, especially those that are important for development of the skeleton and reproductive organs.
The prevalence of campomelic dysplasia is uncertain; estimates range from 1 in 40,000 to 200,000 people.
Campomelic dysplasia 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 result from new mutations in or near the SOX9 gene and occur in people with no history of the disorder in their family. Rarely, affected individuals inherit a chromosome abnormality from a parent who may or may not show mild signs and symptoms of campomelic dysplasia.
OSF Medical Group - Primary Care
Justin Holschbach is a primary care provider, practicing in Family Medicine in Bloomington, Illinois. Dr. Holschbach is rated as an Advanced provider by MediFind in the treatment of Campomelic Dysplasia. He is also highly rated in 45 other conditions, according to our data. His clinical expertise encompasses Low Sodium Level, Peptic Ulcer, Necrosis, and Colorectal Cancer. Dr. Holschbach is board certified in American Board Of Family Medicine.
Tufts Medical Center
Ronald Lechan is an Endocrinologist practicing medicine in Boston, Massachusetts. Dr. Lechan is rated as a Distinguished provider by MediFind in the treatment of Campomelic Dysplasia. He is also highly rated in 85 other conditions, according to our data. His clinical expertise encompasses Pituitary Tumor, Prolactinoma, Langer Mesomelic Dysplasia, and Seckel Syndrome.
BHMA Inpatient Services- JCCH
James Shine is a primary care provider, practicing in Family Medicine in Mountain City, Tennessee. Dr. Shine is rated as an Experienced provider by MediFind in the treatment of Campomelic Dysplasia. His clinical expertise encompasses Langer Mesomelic Dysplasia, Robinow Syndrome, Coffin-Siris Syndrome, and Camptodactyly Syndrome Guadalajara Type 1. Dr. Shine is board certified in .
Published Date: June 01, 2014
Published By: National Institutes of Health