Noonan syndrome is a relatively common genetic disorder characterized by short stature, dysmorphic facial features and congenital heart disease. The disorder is characterized by a wide spectrum of symptoms and physical features that vary greatly in range and severity. In many affected individuals, … See more Aarskog syndrome primarily affects males. Affected boys exhibit a characteristic set of facial, skeletal, and genital abnormalities. Clinical signs may vary from person to person (clinical heterogeneity), even … See more Although Aarskog syndrome is a clinically and genetically heterogeneous condition, the best characterized form of the disorder is inherited as an X-linked trait and caused by changes … See more These children may also have a variety of abnormalities affecting the ears and teeth. Ear abnormalities include low-set ears and thickened, fleshy earlobes. Dental abnormalities include missing teeth at birth, delayed eruption … See more Approximately 50 reports of Aarskog syndrome confirmed by identification of a FGD1 gene mutation have been published worldwide. However, it is possible that some mildly affected children may be unrecognized, making … See more Webstubby definition: 1. short and thick: 2. a small beer bottle that contains 375 ml 3. short and thick: . Learn more.
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