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Multiple synostosis syndrome
- Cytochrome P450 oxidoreductase deficiency is a disorder of hormone production. This condition specifically affects steroid hormones, which are needed for normal ...
- ... thin tooth enamel, crowded or misaligned teeth, and multiple cavities. Additionally, ... allergies, asthma, type 2 diabetes, seizures, congenital heart ...
- ... of the bones in the ears (stapes fixation).Multiple synostoses syndrome 1 is characterized by symphalangism and characteristic facial ... and characteristic facial features like those seen in multiple synostoses syndrome 1.Brachydactyly type B2 is characterized by short ...
- ... fusion of certain bones in the forearm (radioulnar synostosis).Children with Klinefelter syndrome may have low muscle tone (hypotonia), difficulty coordinating ...
- ... chromosomes in each cell.Individuals with 49,XXXXY syndrome have extra copies of multiple genes on the X chromosome. The activity of these extra genes affects many aspects of development, including the development ... with 49,XXXXY syndrome.49,XXXXY syndrome is sometimes described as a ...
- ... each cell.Boys and men with 48,XXXY syndrome have extra copies of multiple genes on the X chromosome. The activity of these extra genes affects many aspects of development, including sexual ... occur with 48,XXXY syndrome.48,XXXY syndrome is sometimes described as a ...