Adams-Oliver SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Adams-Oliver Syndrome
Adams-Oliver syndrome is a rare condition that is present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in people with Adams-Oliver syndrome.
Mutations in the ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, or RBPJ gene can cause Adams-Oliver syndrome. Because some affected individuals do not have mutations in one of these genes, it is likely that other genes that have not been identified are also involved in this condition. Each of the known genes plays an important role during embryonic development, and changes in any one of them can impair this tightly controlled process, leading to the signs and symptoms of Adams-Oliver syndrome.
Adams-Oliver syndrome is a rare disorder; its prevalence is unknown.
Adams-Oliver syndrome can have different inheritance patterns. When caused by mutations in the ARHGAP31, DLL4, NOTCH1, or RBPJ gene, the condition is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. The altered gene is typically inherited from an affected parent. Some cases associated with NOTCH1 gene mutations result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.
Prof Wu practices practicing medicine in Shanghai, China. Wu is rated as an Elite expert by MediFind in the treatment of Adams-Oliver Syndrome. They are also highly rated in 11 other conditions, according to our data. Their clinical expertise encompasses Adams-Oliver Syndrome, Clouston Syndrome, Ectodermal Dysplasias, Bone Graft, and Osteotomy.
St. Christopher's Pediatric Associates Radiology - E. Erie Avenue
Sarah Contrucci is a Radiologist practicing medicine in Philadelphia, Pennsylvania. Dr. Contrucci is rated as an Experienced provider by MediFind in the treatment of Adams-Oliver Syndrome. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Tracheobronchopathia Osteoplastica, Scoliosis, Short Stature (Growth Disorders), and Idiopathic Short Stature (ISS). Dr. Contrucci is board certified in American Board Of Radiology.
Northwell Health Physician Partners Cardiology At Lenox Hill, 9 Black Hall
Robert Rosen is a Cardiologist and an Interventional Cardiologist practicing medicine in New York, New York. Dr. Rosen is rated as an Advanced provider by MediFind in the treatment of Adams-Oliver Syndrome. He is also highly rated in 16 other conditions, according to our data. His clinical expertise encompasses Arteriovenous Malformation, Parkes Weber Syndrome, Klippel-Trenaunay Syndrome, Liver Embolization, and Vulvectomy.
Summary: Ectodermal dysplasia is a rare inherited condition that affects structures derived from the ectoderm, including teeth, skin, hair, and sweat glands. Dental findings are often severe and include missing or malformed teeth and poorly developed jaw ridges. These abnormalities can significantly affect chewing, speech, facial appearance, and quality of life, especially in children and young adults. Rem...
Published Date: November 01, 2015
Published By: National Institutes of Health