Emanuel Syndrome

Overview

Type of disease: Rare conditions

Emanuel syndrome is a chromosome disorder which results in problems in learning, growth, and development. Signs and symptoms vary but can include weak muscle tone and failure to thrive in infancy, developmental delays, severe to profound intellectual disability, small head size, distinctive facial features, small lower jaw, ear abnormalities (e.g., preauricular pits or sinuses), high arched palate (roof of mouth), cleft palate, heart defects, kidney defects, and genital abnormalities (in males). Emanuel syndrome is caused by having extra chromosome 11 and chromosome 22 material in each cell. This condition is usually inherited from a parent who carries a balanced translocation between chromosomes 11 and 22. Click here to visit the Unique: Rare Chromosome Disorder Support Group Web site for further details regarding balanced and unbalanced 11;22 chromosome translocations. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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