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.
Juliana Mazzeu practices practicing medicine in Brasilia, Brazil. Ms. Mazzeu is rated as an Elite expert by MediFind in the treatment of Robinow Syndrome. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Robinow Syndrome, Genital Dwarfism, Acromicric Dysplasia, and Osteopetrosis Autosomal Recessive Type 3.
Access Health & Avera Medical Group Family Health Center — Mitchell
Dr. Jon Olegario is an internal medicine physician at Avera Medical Group Internal Medicine Mitchell. Dr. Olegario is rated as an Advanced provider by MediFind in the treatment of Robinow Syndrome. 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.
Published Date: February 01, 2018
Published By: National Institutes of Health