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.
Abdul Haseeb is a primary care provider, practicing in Family Medicine in Dallas, Texas. Dr. Haseeb is rated as an Elite provider by MediFind in the treatment of Campomelic Dysplasia. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Campomelia Cumming Type, Campomelic Dysplasia, Coffin-Lowry Syndrome, and Osteochondroma.
Access Health & Avera Medical Group Family Health Center — Mitchell
Jonathan Olegario is a primary care provider, practicing in Internal Medicine in Mitchell, South Dakota. Dr. Olegario is rated as an Advanced provider by MediFind in the treatment of Campomelic Dysplasia. He is also highly rated in 51 other conditions, according to our data. His clinical expertise encompasses High Cholesterol, Sitosterolemia, Renovascular Hypertension, and Chronic Cough. Dr. Olegario is board certified in American Board Of Internal Medicine. Dr. Olegario is currently accepting new patients.
Clinical Cancer Center - Froedtert Hospital
Gilbert Fareau is an Endocrinologist practicing medicine in Milwaukee, Wisconsin. Dr. Fareau is rated as an Advanced provider by MediFind in the treatment of Campomelic Dysplasia. He is also highly rated in 66 other conditions, according to our data. His clinical expertise encompasses Thyroid Cancer, Papillary Thyroid Cancer, Medullary Thyroid Carcinoma, Anaplastic Thyroid Cancer, and Thyroidectomy. Dr. Fareau is board certified in Internal Medicine. Dr. Fareau is currently accepting new patients.
Published Date: June 01, 2014
Published By: National Institutes of Health