It has been reported that both male and female patients have had children. Males who have reproduced have all had the autosomal dominant form of the disorder; the fertility of those with the recessive variant is unknown.Researchers have also reported abnormalities in the renal tract of affected patients. Hydronephrosis is a relatively common condition, and researchers have theorized that this may lead to urinary tract infections. In addition, a number of patients have suffered from cystic dysplasia of the kidney.A number of other conditions are often associated with Robinow syndrome. About 15% of reported patients suffer from congenital heart defects. Though there is no clear pattern, the most common conditions include pulmonary stenosis and atresia. In addition, though intelligence is generally normal, around 15% of patients show developmental delays. Genetics
Genetic studies have linked the autosomal recessive form of the disorder to the ROR2 gene on position 9 of the long arm of chromosome 9. The gene is responsible for aspects of bone and cartilage growth. This same gene is involved in causing autosomal dominant brachydactyly B. The autosomal dominant form has been linked to three genes - WNT5A, Segment polarity protein dishevelled homolog DVL-1 (DVL1) and Segment polarity protein dishevelled homolog DVL-3 (DVL3). This form is often caused by new mutations and is generally less severe than the recessive form. Two further genes have been linked to this disorder - Frizzled-2 (FZD2) and Nucleoredoxin (NXN gene). All of these genes belong to the same metabolic pathway - the WNT system.
The ascending reticular activating system is a postulated group of neural connections that receives sensory input and projects to the cerebral cortex through the midbrain and thalamus from the reticular formation. Since this system is thought to modulate wakefulness and sleep, interference with it, such as injury, illness, or metabolic disturbances, could alter the level of consciousness.Normally, stupor and coma are produced by interference with the brain stem, such as can be caused by a lesion or indirect effects, such as brain herniation. Mass lesions in the brain stem normally cause coma due to their effects on the reticular formation. Mass lesions that occur above the tentorium cerebelli normally do not significantly alter the level of consciousness unless they are very large or affect both cerebral hemispheres. Diagnosis
Assessing LOC involves determining an individuals response to external stimuli. Speed and accuracy of responses to questions and reactions to stimuli such as touch and pain are noted. Reflexes, such as the cough and gag reflexes, are also means of judging LOC. Once the level of consciousness is determined, clinicians seek clues for the cause of any alteration. Usually the first tests in the ER are pulse oximetry to determine if there is hypoxia, serum glucose levels to rule out hypoglycemia. A urine drug screen may be sent. A CT head is very important to obtain to rule out bleed. In cases where meningitis is suspected, a lumbar puncture must be performed. A serum TSH is an important test to order. In select groups consider vitamin B12 levels.