Question: What is (are) Congenital radio-ulnar synostosis ?
Answer: Congenital radio-ulnar synostosis is a rare condition in which there is an abnormal connection (synostosis) of the radius and ulna (bones in the forearm) at birth. The condition is present in both arms (bilateral) in approximately 60% of cases. Signs and symptoms depend on the severity of the abnormality and whether it is bilateral; affected individuals often have limited rotational movement of the forearm. Pain is usually not present until the teenage years. It is due to abnormal fetal development of the forearm bones, but the underlying cause is not always known. It is sometimes a feature of certain chromosome abnormalities or genetic syndromes. Some cases appear to be inherited in an autosomal dominant manner. Treatment may be conservative or involve surgery depending on the severity of the abnormality and the range of movement.
Source: GARD

Question: What are the symptoms of Congenital radio-ulnar synostosis ?
Answer: What are the signs and symptoms of Congenital radio-ulnar synostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital radio-ulnar synostosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Dislocated radial head - Limited elbow extension - Radioulnar synostosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD

Question: What causes Congenital radio-ulnar synostosis ?
Answer: What causes congenital radio-ulnar synostosis? Congenital radio-ulnar synostosis is caused by abnormal development of the forearm bones in the fetal period, although the underlying cause of the developmental abnormality is not always known. The condition may be isolated (occur without other abnormalities) or it may be associated with various other skeletal, cardiac (heart), neurologic, or gastrointestinal abnormalities. When other abnormalities are present, the condition may be due to an underlying genetic cause, including a variety of syndromes or chromosome abnormalities. In some cases, congenital radio-ulnar synostosis appears to be inherited in an autosomal dominant manner. In an article published in 2000, the authors found that autosomal dominant radio-ulnar synostosis with amegakaryocytic thrombocytopenia was caused by mutations in the HOXA11 gene in 2 families.
Source: GARD

Question: Is Congenital radio-ulnar synostosis inherited ?
Answer: How is congenital radio-ulnar synostosis inherited? Congenital radio-ulnar synostosis appears to be inherited in an autosomal dominant manner in some cases. This means that one mutated copy of the disease-causing gene in each cell is sufficient to cause the condition. The mutated gene may occur for the first time in an affected individual, or it may be inherited from an affected parent. Each child of an individual with an autosomal dominant condition has a 50% (1 in 2) risk to inherit the mutated copy of the gene. Congenital radio-ulnar synostosis may also occur with a variety of other abnormalities and may be associated with a chromosome abnormality or genetic syndrome. In these cases, the inheritance pattern may depend upon that of the underlying genetic abnormality. Some genetic abnormalities that have been reported in association with this condition include Apert syndrome, Carpenter syndrome, arthrogryposis, Treacher Collins syndrome, Williams syndrome, Klinefelter syndrome, and Holt-Oram syndrome. Congenital radio-ulnar synostosis may also occur sporadically as an isolated abnormality, in which case the cause may be unknown.
Source: GARD