Learn About Microcephaly Deafness Syndrome

What is the definition of Microcephaly Deafness Syndrome?
Microcephaly deafness syndrome, also known as microcephaly-deafness-intellectual disability syndrome, is a very rare inherited (genetic) disorder characterized by an abnormally small head (microcephaly), deafness, intellectual deficit, and abnormal facial characteristics, such as asymmetrical features.
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What are the symptoms of Microcephaly Deafness Syndrome?
Symptoms of microcephaly deafness syndrome may include an abnormally small head (microcephaly); sensorineural deafness; intellectual deficit; and abnormal facial characteristics, such as asymmetrical features, protruding lower lip, off-set and/or low-set cup-shaped ears, abnormally small jaw, eye folds, drooping lower lip, and prominent area between the eyebrows; palate abnormalities, speech impairment, and short stature.
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What are the current treatments for Microcephaly Deafness Syndrome?
There is no cure for microcephaly deafness syndrome. Treatment consists of supportive care.
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What are the latest Microcephaly Deafness Syndrome Clinical Trials?
North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2

Summary: The North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2) study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family well-being as well as diagnostic efficacy, management planning, and medical outcomes. A clinical trial will be implemented to compare (1) first-line exome sequencing to usu...

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What are the Latest Advances for Microcephaly Deafness Syndrome?
Clinical case analysis and literature review of mandibulofacial dysostosis with microcephaly syndrome.
Eye, Ocular Adnexa, and Facial Manifestations of Tetrasomy 18p.
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