Based on these similarities, researchers are investigating whether Duane-radial ray syndrome and acro-renal-ocular syndrome are separate disorders or part of a single syndrome with many possible signs and symptoms. The features of Duane-radial ray syndrome also overlap with those of a condition called Holt-Oram syndrome; however, these two disorders are caused by mutations in different genes. Evaluations after Initial Diagnosis
Evaluations by certain specialists should be performed following the initial diagnosis of Duane-radial ray syndrome. These evaluations will be used to determine the extent of the disease as well as the needs of the individual. Eyes - Complete eye exam by an optometrist or ophthalmologist especially focusing on the extraocular movements of the eye and the structural eye defects
Heart - evaluation by a cardiologist along with an echocardiogram and ECG
Kidneys - Laboratory tests to check kidney function and a renal ultrasound
Hearing
Endocrine - evaluation for growth hormone deficit if growth retardation present
Blood - CBC to check for thrombocytopenia and leukocytosis
Clinical genetics consultation

Testing
Since Duane-radial ray syndrome is a genetic disorder, a genetic test would be performed. One test that can be used is the SALL4 sequence analysis that is used to detect if SALL4 is present. If there is no pathogenic variant observed, a deletion/duplication analysis can be ordered following the SALL4 sequence analysis. As an alternative, another genetic test called a multi-gene panel can be ordered to detect SALL4 and any other genes of interest. The methods used for this panel vary depending on the laboratory.
Duane-radial ray syndrome, also known as Okihiro Syndrome, is a rare autosomal dominant disorder that primarily affects the eyes (Duane anomaly) and causes abnormalities of bones in the arms and hands (radial ray malformations). This disorder is considered to be a SALL4-related disorder due to the SALL4 gene mutations leading to these abnormalities. It is diagnosed by clinical findings on a physical exam as well as genetic testing and imaging. After being diagnosed, there are other evaluations that one may go through in order to determine the extent of the disease. There are various treatments for the symptoms of this disorder. Symptoms
Duane-radial ray syndrome has two major features that appear in the majority of cases. These two features are Duane anomaly and radial ray malformations. Each feature appears in 65% and 91% of cases respectively. Duane Anomaly
Also known as Duane syndrome, Duane anomaly is a congenital strabismus syndrome that is characterized by certain eye movements. This results from improper nerve development for eye movement.The following are characteristics of Duane anomaly:
Inability to fully abduct (away from the midline) the eye either unilaterally or bilaterally
Narrowing of the palpebral fissure
Retraction of the globe on adduction (toward the midline)
Absence of the abducens nucleus and nerve (cranial nerve VI)
Abnormal eye movement due to the lateral rectus muscle being innervated by a branch of the oculomotor nerve (cranial nerve III)

Radial Ray Malformations
This is characterized by hand and arm abnormalities.