Learn About Robinow Syndrome
Robinow syndrome is a rare disorder that affects the development of many parts of the body, particularly the skeleton. The types of Robinow syndrome can be distinguished by the severity of their signs and symptoms and by their pattern of inheritance: autosomal recessive or autosomal dominant.
Autosomal recessive Robinow syndrome results from mutations in the ROR2 gene. This gene provides instructions for making a protein whose function is not well understood, although it is involved in chemical signaling pathways that are essential for normal development before birth. In particular, the ROR2 protein appears to play a critical role in the formation of the skeleton, heart, and genitals. Mutations in the ROR2 gene prevent cells from making any functional ROR2 protein, which disrupts development starting before birth and leads to the characteristic features of Robinow syndrome.
Both the autosomal recessive and autosomal dominant forms of Robinow syndrome are rare.
As discussed above, Robinow syndrome can have either an autosomal recessive or an autosomal dominant pattern of inheritance.
Joy Richman practices in Canada. Ms. Richman is rated as an Elite expert by MediFind in the treatment of Robinow Syndrome. Her top areas of expertise are Robinow Syndrome, Genital Dwarfism, Acromicric Dysplasia, and Cleft Lip and Palate.
UPMC Primary Care
Khyati Kadia, MD, specializes in family medicine and is certified by the American Board of Family Medicine. She practices at Altoona Family Physicians and is affiliated with UPMC Altoona. She completed her residency at University of Illinois College of Medicine at Rockford and medical degree at Windsor University School of Medicine. Dr. Kadia is rated as an Advanced provider by MediFind in the treatment of Robinow Syndrome. Her top areas of expertise are Kenny-Caffey Syndrome Type 2, Campomelic Dysplasia, Winchester Syndrome, and Russell-Silver Dwarfism.
Promedica Central Physicians
Mohammad El Sayyad is a primary care provider, practicing in Family Medicine in Maumee, Ohio. Dr. El Sayyad is rated as an Experienced provider by MediFind in the treatment of Robinow Syndrome. His top areas of expertise are Multisystem Inflammatory Syndrome in Children (MIS-C), COVID-19, Lung Metastases, Gastrostomy, and Endoscopy. Dr. El Sayyad is currently accepting new patients.
Published Date: February 01, 2018
Published By: National Institutes of Health