The entire family is supported to help the affected children and their families adjust better. Prevalence
The estimated prevalence of Jacobsen syndrome is believed to be approximately 1 out of every 100,000 births. For reasons unknown, females are twice as likely to have Jacobsen syndrome than males. No preference for any race or ethnicity has been reported so far. History
The syndrome was first identified by Danish geneticist Petrea Jacobsen in 1973 and was named after her. She discovered it in a family where multiple people had the disorder, and found that the affected children had unbalanced translocation between chromosome 11 and 21 which they had inherited from one of their parents who had balanced translocation. Since then, only 200 cases have been reported of Jacobsen syndrome in medical literature. References


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Differential diagnosis
A renal colic must be differentiated from the following conditions:
biliary colic and cholecystitis
aortic and iliac aneurysms (in older patients with left-side pain, hypertension or atherosclerosis)
interstitial: appendicitis, diverticulitis or peritonitis (in this case patients prefer to lie still rather than being restless)
gynaecological: endometriosis, ovarian torsion and ectopic pregnancy
testicular torsion

Treatment
Most small stones are passed spontaneously and only pain management is required. Above 5 mm (0.20 in) the rate of spontaneous stone passage decreases. NSAIDs (non-steroidal anti-inflammatory drugs), such as diclofenac or ibuprofen, and antispasmodics like butylscopolamine are used. Although morphine may be administered to assist with emergency pain management, it is often not recommended as morphine is addictive and raises ureteral pressure, worsening the condition. Vomiting is also considered an important adverse effect of opioids, mainly with pethidine. Oral narcotic medications are also often used.There is typically no antalgic position for the patient (lying down on the non-aching side and applying a hot bottle or towel to the area affected may help). Larger stones may require surgical intervention for their removal, such as shockwave lithotripsy, laser lithotripsy, ureteroscopy or percutaneous nephrolithotomy. Patients can also be treated with alpha blockers in cases where the stone is located in the ureter. References


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