Definition:
Dubowitz syndrome is a very rare genetic disorder. It is often characterized by microcephaly, slow to very retarded growth and a rather unusual facial appearance like having small or round or even triangular shaped with a pointed chin with either a broad or wide-tipped nose, and eyes which are usually wide-set and drooping eyelids. It was first described by English physician Victor Dubowitz in 1965. Majority of cases are from the Russia, United States, and Germany. It also appears to have an equal affect to different ethnicities and even genders.
Diagnosis:
The pathogenisis of Dubowitz syndrome is not yet identified and there is no medical tests that can diagnose the disease definitely. The main method to diagnose this disorder is by identifying the facial phenotype.
Symptoms and Signs:
Symptoms largely vary among different patients, however other characteristics may include a soft but high pitched voice, webbing of fingers and toes but not totally, deformations of the palate, some abnormalities in the genitalia, eczema, being hyperactive, usualy prefer thinking concretely over abstracts, manifest difficulties in the language and are often scared of big crowds.
Causes:
This disorder is genetic and may be acquired by people or a child through his parents gentic information.
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