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Abnormality of the skeletal system
- ... cells. Impaired RNase MRP enzyme complex causes dwarfism, skeletal abnormalities, abnormal immune system function (immune deficiency), elevated cancer risk, sparse hair ...
- Fetal Alcohol Syndrome (American Association for Pediatric Ophthalmology and Strabismus)Fetal Alcohol Spectrum Disorders/Related Issues ... Fetal Alcohol Spectrum Disorders ... Eye Diseases/Related Issues ... Eye Diseases ... GLOSSARY, TERMS, ACRONYMS, PHRASES, ...
- ... congenital contractural arachnodactyly involves both heart and digestive system abnormalities in addition to the skeletal features described above; individuals with this severe form ...
- ... short stature; frequent ear and sinus infections; and skeletal abnormalities. The disorder can also affect the digestive system, kidneys, and genitalia. The life expectancy of people ...
- ... growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent ...
- ... unusually small head size (microcephaly), short stature, and skeletal abnormalities. Many affected individuals have problems with the digestive system, such as a backflow of stomach acids into ...
- ... with SPENCDI, increased bone remodeling contributes to the skeletal abnormalities, including irregularly shaped bones and short stature. An overactive immune system leads to increased susceptibility to autoimmune disorders and ...
- ... The features of MPS VI affect many bodily systems, including skeletal, cardiac, and respiratory.MPS VI causes various skeletal abnormalities, including a large head (macrocephaly) with a buildup ...
- ... kidneys, an enlarged liver and spleen (hepatosplenomegaly), and skeletal abnormalities. Additionally, the syndrome can affect the development of the gastrointestinal system, urinary system, and genitalia. Some people with this ...
- ... with SPENCDI, increased bone breakdown contributes to the skeletal abnormalities, including irregularly shaped bones and short stature. An overactive immune system leads to increased susceptibility to autoimmune disorders, which ...