Emanuel syndrome, also known as derivative 22 syndrome, or der(22) syndrome, is a rare disorder associated with multiple congenital anomalies, including profound intellectual disability, preauricular skin tags or pits, and conotruncal heart defects. It can occur in offspring of carriers of the constitutional chromosomal translocation t(11;22)(q23;q11), owing to a 3:1 meiotic malsegregation event resulting in partial trisomy of chromosomes 11 and 22. An unbalanced translocation between chromosomes 11 and 22 is described as Emanuel syndrome. It was first described in 1980 by American medical researchers Beverly S. Emanuel and Elaine H. Zackai, and a consortium of European scientists the same year. Sign and symptoms
Infants with Emanuel syndrome have weak muscle tone (hypotonia) and fail to gain weight and grow at the expected rate (failure to thrive). Their development is significantly delayed, and most affected individuals have severe to profound intellectual disability. Other features of Emanuel syndrome include an unusually small head (microcephaly), distinctive facial features, and a small lower jaw (micrognathia). Ear abnormalities are common, including small holes in the skin just in front of the ears (preauricular pits, or sinuses). About half of all affected infants are born with an opening in the roof of the mouth (cleft palate) or a high arched palate. Males with Emanuel syndrome often have genital abnormalities. Additional signs of this condition can include heart defects and absent or unusually small (hypoplastic) kidneys; these problems can be life-threatening in infancy or childhood. Causes
Emanuel syndrome is an inherited chromosome abnormality.
The affected lung, which has a great deal of elastic tissue, shrivels in what is referred to as a collapsed lung. Diagnosis
If you have an injury or trauma to your chest, your doctor may order a chest X-ray to help see if fluid or air is building up within the chest cavity. Other diagnostic tests may also be performed to further evaluate the fluid in around the lungs, for instance a chest CT scan or an ultrasound. An ultrasound of the chest will show the amount of fluid and its exact location. Treatment
Treatment for this condition is the same as for hemothorax and pneumothorax independently: by tube thoracostomy, the insertion of a chest drain through an incision made between the ribs, into the intercostal space. A chest tube must be inserted to drain blood and air from the pleural space so it can return to a state of negative pressure and function normally.Commonly, surgery is needed to close off whatever injuries caused the blood and air to enter the cavity (e.g. stabbing, broken ribs). See also
Catamenial pneumothorax
Tension pneumothorax
Pulmonary contusion

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