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Jarcho- Levin syndrome(JLS) is a rare, inherited, genetic condition that is characterized by the combination of short stature (short-trunk dwarfism), vertebral and rib malformations and respiratory problems due to deformity of the chest cavity. There are two forms or subtypes of the condition: spondylocostal dysostosis and spondylothoracic dysplasia. ...

Jervell and Lange-Nielsen syndrome (JLNS) is a rare, inherited, genetic disorder characterized by profound deafness and disturbances of heart rhythm (arrhythmias) that may lead to the loss of consciousness and even sudden death. The risk of sudden death is due to the prolongation of the electrical impulse that leads to contraction and relaxation of the heart (QT interval). A prolonged QT interval ...

Jeune’s Syndrome is an inherited form of dwarfism characterized by many bone abnormalities. The most pronounced bone abnormality is in the rib cage where the ribs are broad, short, and irregularly joined to the sternum (breastbone). These children have a small, inflexible, bell-shaped chest cavity that doesn’t grow well. The reduced space inside the chest cavity interferes with the lungs ability t...

Joubert syndrome is a rare genetic disorder that affects the part of the brain called the cerebellar vermis that is responsible for controlling the coordination of muscles and thus the body’s ability to attain balance and smooth movement. The most common features include a lack of muscle control, low muscle tone, abnormal breathing patterns, abnormal eye and tongue movements, and sleep apnea (sto...

Juvenile angiofibroma, also called juvenile nasopharyngeal angiofibroma (JNA), is a rare noncancerous growth made of tissue fibers and blood vessels. The tumor usually first appears in the back part of the nose and may be visible. Though a juvenile angiofibroma does not spread to other areas of the body, it can be aggressive and grow into surrounding parts of the face. This tumor can even invade ...

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Full disease list by letter:
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