Talk:Emanuel syndrome

December 2011 Edit

Hello Everyone i was editing the Emanuel Syndrom article can you please take look at the one i did (found below) and give me any pointers so i can improve the article.

Causes

Emanuel syndrome is an inherited chromosome abnormality. It is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. In addition to the usual 46 chromosomes, people with Emanuel syndrome have an extra (supernumerary) chromosome consisting of a piece of chromosome 11 attached to a piece of chromosome 22. The extra chromosome is known as a derivative 22 or der(22) chromosome.

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.

Genetics

People with Emanuel syndrome typically inherit the der(22) chromosome from an unaffected parent. The parent carries a chromosomal rearrangement between chromosomes 11 and 22 called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. As this translocation is passed to the next generation, it can become unbalanced. Individuals with Emanuel syndrome inherit an unbalanced translocation between chromosomes 11 and 22 in the form of a der(22) chromosome. These individuals have two normal copies of chromosome 11, two normal copies of chromosome 22, and extra genetic material from the der(22) chromosome. As a result of the extra chromosome, people with Emanuel syndrome have three copies of some genes in each cell instead of the usual two copies. The excess genetic material disrupts the normal course of development, leading to intellectual disability and birth defects. Researchers are working to determine which genes are included on the der(22) chromosome and what role these genes play in development.

Treatment

While there is no cure for this syndrome, many complications associated with this syndrome can be treated, and a great deal can be done to support and compensate for functional disabilities. Depending on the age and extent of systemic involvement of the individual with Emanuel syndrome, evaluations involving healthcare providers from multiple specialties are necessary. In some cases, palliative care is appropriate when there are severe structural defects and/or renal failure. Cardiac evaluation with an echocardiogram to screen for cardiac defects. Atrial septal defects (in which the wall that separates the upper heart chambers does not close completely) are the most common defects and may not be detected by physical examination alone. Renal ultrasound examination to evaluate for structural kidney anomalies; if indicated, vesicoureterogram (VCUG) to evaluate for vesicoureteral reflux Palatal evaluation for cleft palate. Gastrointestinal evaluation with appropriate radiologic studies for structural anomalies of the gastrointestinal (GI) tract, in particular anal stenosis or diaphragmatic abnormalities, gastroesophageal reflux. Feeding and swallowing assessment. Orthopedic evaluation with appropriate radiologic studies for hip dysplasia as well as joint contractures, club foot, curvature of the spine, and radio-ulnar synostosis. Otolaryngology (ENT) evaluation for stenosis or atresia of the ear canals. Audiology evaluation with auditory brain stem response testing and otoacoustic emission testing. Ophthalmologic evaluation, including dilated fundoscopic examination, to assess visual acuity and to evaluate for strabismus. Evaluation by a developmental pediatrician and therapists to develop educational/therapeutic intervention with emphasis on communication skills. — Preceding unsigned comment added by MOmEnI21 (talk • contribs) 16:30, 8 December 2011 (UTC)

The updated article is much more intelligible than the original stub. Unfortunately, some of the new material appears to have been copied from other websites. Any publication by the US federal government is public domain and may be used freely, but copyrighted material may not be used. I will attempt to remove any copyrighted material, such as the section on treatment, which was taken from here (Copyright © 2011 FDNA Inc.). Copyrighted pages can be used as sources, but cannot be quoted directly unless the copyright owner provides a special license.--Koppas (talk) 17:11, 19 February 2012 (UTC)