About le jeune syndrome

What is le jeune syndrome?

Cri du chat syndrome (CdCS or 5p-) is a rare genetic disorder in which a variable portion of the short arm of chromosome 5 is missing or deleted (monosomic). Symptoms vary greatly from case to case depending upon the exact size and location of the deleted genetic material. Common symptoms include a distinctive cry that resembles the mewing of a cat, characteristic facial features, slow growth, and microcephaly, a condition that indicates that head circumference is smaller than would be expected for an infant's age and sex. Affected children also exhibit delays in the acquisition of skills requiring the coordination of muscular and mental activities (psychomotor disability) and moderate to severe intellectual disability. Additional symptoms affecting different organ systems of the body can also occur. Most cases are thought arise from spontaneous (de novo) genetic errors very early in embryonic development.

What are the symptoms for le jeune syndrome?

ATD is characterized by abnormal development of the rib cage (thorax) resulting in a small thoracic cavity. The characteristic “bell-shaped” chest cavity restricts the growth of the lungs and results in a variable degree of lung Hypoplasia and breathing problems (respiratory distress) in the newborn period.

Other clinical features that can be apparent at birth include too many fingers and/or toes (polydactyly), mild to moderate shortening of the long bones of the arms and legs (micromelia), insufficient growth of the pelvic bones, and cardiac defects.

Patients typically present in the newborn period with variable degrees of respiratory distress and recurrent respiratory infections. These breathing problems are the most serious complications of ATD and are the main cause of mortality in these patients. Some reports indicate that 50-60% of children with ATD die in infancy or during the first few years after birth. For those patients that live into early childhood, the breathing problems tend to improve with age such that a subset of patients may live into adolescence or adulthood.

Other complications of ATD can occur as the child grows including: high blood pressure, renal cysts, pancreatic cysts, and, less commonly liver diseases, dental abnormalities, and reduced or deteriorating vision (retinal dystrophy).

Affected individuals may develop chronic nephritis (a kidney condition) that may lead to kidney failure or malfunctions. Heart abnormalities and narrowing of the airway may also occur.

What are the causes for le jeune syndrome?

Mutations in 24 genes have been found to cause ATD to date. The genes are: IFT43/52/80/81/122/140/172, WDR19/34/35/60, DYNC2H1, DYNC2LI1, CEP120, NEK1, TTC21B, TCTEX1D2, INTU, TCTN3, EVC 1/2 and KIAA0586/0753.

It is estimated that 70 percent of affected individuals have mutations in one these genes. Mutations in these genes result in abnormal cilia proteins that affect bone development.

ATD is inherited in an autosomal recessive pattern. Recessive genetic disorders occur when an individual inherits a non-working gene from each parent. If an individual receives one working gene and one non-working gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the non-working gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier, like the parents, is 50% with each pregnancy. The chance for a child to receive working genes from both parents is 25%. The risk is the same for males and females.

What are the treatments for le jeune syndrome?

Treatment is based on managing respiratory infections and monitoring renal and hepatic function regularly. The risk of severe respiratory infections diminishes after age two.

The vertical expandable prosthetic titanium rib (VEPTR) was approved by the FDA in 2004 as a treatment for thoracic insufficiency syndrome (TIS) in pediatric patients. TIS is a congenital condition where severe deformities of the chest, spine, and ribs prevent normal breathing and lung development. The VEPTR is an implanted, expandable device that helps straighten the spine and separate ribs so that the lungs can grow and fill with enough air to breathe. The length of the device can be adjusted as the patient grows. For treatment of spondylothoracic dysplasia, ribs are separated on each side of the chest and VEPTRs are placed on each side of the chest.

What are the risk factors for le jeune syndrome?

Le jeune syndrome is a rare genetic disorder that affects the development of bones and joints, as well as the function of the heart and lungs. It is caused by a mutation in the JAG1 gene, which can affect any organ system in the body.

There are several risk factors that can increase your chances of developing Jeune syndrome.

1. Family history: The first is having a family history of the condition. If you have relatives who have been diagnosed with Jeune syndrome, your doctor may recommend that you get tested to see if you're at risk.

2. Age: Another risk factor is age. The condition usually affects people between the ages of 20 and 30, but it can also affect people up to the age of 40.

Other factors that increase your risk of developing Jeune syndrome include:

1. Smoking cigarettes or using other tobacco products (including chewing tobacco)

2. Drinking alcohol excessively (more than two drinks per day for men and one drink per day for women)

3. Having high blood pressure or high cholesterol

Poor muscle tone (hypotonia),Seizures or convulsions,Developmental delay (including speech delays, motor delays, and cognitive delays)
Curved spine (scoliosis),Low muscle tone (hypotonia),Short stature,Delayed development of motor skills like sitting up and walking,Delayed speech development
Erythromycin or Ery-Tab,Clarithromycin or Biaxin,Azithromycin or Zithromax

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