Those with this condition can have affected parents, but it can also manifest for the first time with no family history which is called de novo. Since Duane-radial ray syndrome is an autosomal dominant disorder, there is a 50% chance of passing the mutation on to offspring. Mechanism
The mechanism for this disorder is somewhat unclear. What is known is that Duane-radial ray syndrome begins with mutations in the SALL4 gene. Due to these mutations, the proteins involved in embryonic development for making tissues and organs are not functioning properly. These proteins then cause improper development of bones (e.g. absence of the radius), abnormal eye movements, and other miscellaneous symptoms. Diagnosis
The diagnosis for this syndrome is based on clinical findings on a physical exam and the presence of a heterozygous SALL4 pathogenic variant. During the physical exam, Duane-radial ray syndrome is clinically established by the following clinical findings:

Duane Anomaly
Limitation of abduction of the eye
Retraction of the globe
Narrowing of the palpebral fissure during adduction
Radial Ray Malformations
Malformed, absent, or extra thumb
A thumb that looks more like a finger
Duplication of the thumb (preaxial polydactyly)
Deformity of the arm due to a lack of the radius
Any of the symptoms above that can observed
Hearing loss
Clubfoot
Unusually shaped ears

Related conditions
The varied signs and symptoms of Duane-radial ray syndrome often overlap with features of other disorders. For example, acro-renal-ocular syndrome is characterized by Duane anomaly and other eye abnormalities, radial ray malformations, and kidney defects. Both conditions can be caused by mutations in the same gene.
An ectopic pancreas is an anatomical abnormality in which pancreatic tissue has grown outside its normal location and without vascular or other anatomical connections to the pancreas. It is a congenital disease and is also known as heterotopic, accessory, or aberrant pancreas. Signs and symptoms
Often, heterotopic pancreas is asymptomatic. When present, symptoms may include abdominal pain and distension. Often heterotopic pancreas is recognized as an incidental finding on imaging studies performed for an unrelated reason. Ectopic pancreatic tissue may occur anywhere in the abdominal cavity, though more than 90 percent are found in the stomach, duodenum or jejunum. Rarely, pancreatic heterotopic tissue may be found in the colon, spleen or liver. Diagnosis
The diagnosis of ectopic pancreas can be challenging. Confirmation of the diagnosis requires tissue sampling, via biopsy or surgical resection. Treatment
If no symptoms are present, then treatment is not necessary. When symptoms are present, treatment consists of surgical resection. Epidemiology
The incidence of heterotopic pancreas is relatively low. References


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