Question: How many people are affected by Duane-radial ray syndrome ?
Answer: Duane-radial ray syndrome is a rare condition whose prevalence is unknown. Only a few affected families have been reported worldwide.
Source: GHR

Question: What are the genetic changes related to Duane-radial ray syndrome ?
Answer: Duane-radial ray syndrome results from mutations in the SALL4 gene. This gene is part of a group of genes called the SALL family. SALL genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. The proteins produced from these genes act as transcription factors, which means they attach (bind) to specific regions of DNA and help control the activity of particular genes. The exact function of the SALL4 protein is unclear, although it appears to be important for the normal development of the eyes, heart, and limbs. Mutations in the SALL4 gene prevent cells from making any functional protein from one copy of the gene. It is unclear how a reduction in the amount of the SALL4 protein leads to Duane anomaly, radial ray malformations, and the other features of Duane-radial ray syndrome and similar conditions.
Source: GHR

Question: Is Duane-radial ray syndrome inherited ?
Answer: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered SALL4 gene in each cell is sufficient to cause the disorder. In many cases, an affected person inherits a mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Source: GHR

Question: What are the treatments for Duane-radial ray syndrome ?
Answer: These resources address the diagnosis or management of Duane-radial ray syndrome: - Gene Review: Gene Review: SALL4-Related Disorders - Genetic Testing Registry: Duane-radial ray syndrome - MedlinePlus Encyclopedia: Skeletal Limb Abnormalities These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Source: GHR