Jeune syndrome situs inversus
Overview
A very rare syndrome characterized mainly by short-limbed dwarfism, small chest, abnormally placed internal organs and various other abnormalities
Symptoms
* Tongue lobulation * Extra thumb * Situs inversus * Absent spleen * Long chest * Narrow chest * Small chest * Reduced lung capacity * Short arms * Short legs * Short-limbed dwarfism * Kidney lesions
Causes
* Jeune syndrome is known to be genetically heterogeneous. One locus is at chromosome 15q13. Another locus is at chromosome 3q24-3q26. * Jeune syndrome is the first chondrodysplasia to be linked to a defect in intraflagellar transport (IFT) or primary cilia function. * Recessive mutation in IFT80, which encodes a conserved intraflagellar transport protein, has been shown in Jeune syndrome.
Diagnosis
signs and symptoms of Jeune syndrome - situs inversus may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Jeune syndrome - situs inversus symptoms.