Robinow SyndromeSymptoms, Doctors, Treatments, Advances & More
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 practicing medicine in Canada. Ms. Richman is rated as an Elite expert by MediFind in the treatment of Robinow Syndrome. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Robinow Syndrome, Genital Dwarfism, Acromicric Dysplasia, and Cleft Lip and Palate.
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 Robinow Syndrome. 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.
BHMA Inpatient Services- JCCH
. Dr. Shine is rated as an Experienced provider by MediFind in the treatment of Robinow Syndrome. 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: February 01, 2018
Published By: National Institutes of Health