This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Emanuel syndrome is a chromosomal disorder that is characterized by learning problems and stunted growth and development. The signs and symptoms are varied and may include decreased muscle tone (hypotonia) and developmental delay in childhood, intellectual disability severe, extremely small head (microcephaly), distinctive facial features, small jaw, ear anomalies, arched palate (roof of the mouth), cleft palate, heart defects, kidney malformations, and genital abnormalities (in males). Emanuel syndrome is caused by the presence of additional genetic material of the chromosomes 11 and 22 in each cell. This condition is usually inherited from a parent who has a balanced translocation between chromosomes 11 and 22. Treatment depends on the signs and symptoms present in the individual. People with Emanuel syndrome are typically by a team of several specialists.
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