User:JMILES19/Wiedemann–Steiner syndrome

Wiedemann–Steiner syndrome  (WSS)  is a rare genetic disorder that causes developmental delay, unusual facial features, short stature, and reduction in muscle tone (hypotonia). affects effects various parts of the body. Infants effected diagnosed with this disorder are typically larger than normal (macrosomia), this causes researchers to classify this disorder as an overgrowth syndrome. All cases reported so far are sporadic. The syndrome was originally described in 1989 by Hans-Rudolf Wiedemann. The genetic basis for the syndrome was identified by Dr. Wendy D. Jones in 2012. The first case was reported in 1989 by wiedemann et al which reported a Caucasian boy with pre- and postnatal growth deficiency, psychomotor delay, and a round and flat face, short nose, widely spaced eyes, long philtrum, short palpebral fissures, low-set ears, and high-arched palate. Other findings included an alternating convergent squint, dilatation of the renal calyces, and short and thick limbs. Later decades brought about more finding and descriptions of this disorder.

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Signs and symptoms
Features described in Wiedemann–Steiner syndrome include:


 * Short stature
 * Developmental delay
 * Low muscle tone (hypotonia) especially in infancy
 * Characteristic facial features
 * Hairy elbows (hypertrichosis cubiti)
 * Unusual facial features

Wiedemann–Steiner syndrome may be related to global developmental delays, sleeping difficulties, feeding and digestion complexities, unusual facial features, short/petite stature, hypotonia, dental issues, hairy elbows, long eyelashes, etc.

Epidemiology
A little over 1000 people have been documented with the condition worldwide. Once thought to have an incidence of 1 in 1,000,000, some research has suggested the incidence may be as high as 1 in 40,000   The approximate number of WSS cases are seemingly low today but offspring of those with WSS have half the chance of having the disorder themselves.There’s no current evidence of life expectancy of individuals with WSS is shortened.

Screening
There isn't much diagnostic testing available with this syndrome. WSS is not diagnosed by the routine prenatal screening tests that are used to identify syndromes like Down syndrome. Additionally, WSS testing is not performed as part of the initial genetic diagnostic procedures carried out after birth. The majority of WSS cases have been identified using whole exome sequencing. Whole exome testing is either not an option provided by medical practitioners, or the accompanying costs are either not covered by insurance or come with a high copay, which prevents people from getting the testing done. Patients frequently receive other inaccurate medical diagnoses or a broader, less precise diagnosis, such as autism or Rubenstein-Taybi Syndrome.