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Apr 7, 2022 · Common facial features of Angelman syndrome include: A short and broad skull (brachycephaly). Abnormally large tongue (macroglossia) that may stick out of their mouth.
Mar 8, 2024 · Angelman syndrome is a condition caused by a change in a gene, called a genetic change. Angelman syndrome causes delayed development, problems with speech and balance, mental disability, and, sometimes, seizures.
Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, and sleep problems.
Feb 14, 2018 · In some cases, individuals with Angelman syndrome may have distinctive facial features including a prominent chin, deep-set eyes, an abnormally wide mouth (marcostomia) with a protruding tongue, widely-spaced teeth and an abnormally flat back of the head (brachycephaly).
Adults with Angelman syndrome have distinctive facial features that may be described as "coarse." Other common features include unusually fair skin with light-colored hair and an abnormal side-to-side curvature of the spine ( scoliosis ).
Feb 2, 2022 · Computer analysis of the faces of Angelman syndrome patients found distinct facial features that changed from childhood to adulthood, a study has found. These differences in facial structure may help identify and diagnose people with the condition, the researchers said.
Sep 15, 1998 · Individuals depicted have a genetically confirmed diagnosis of Angelman syndrome. Happy expression and an unstable gait accompanied by uplifted arms are commonly observed. At times, the facial appearance can suggest the diagnosis, but usually facial features
