syndrome characterized
Research Topic
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Research problems linked to this topic
- Paraneoplastic syndromes are disorders caused by cancer that are not a direct result of the cancer mass itself or metastases to the affected organ.
- Restless legs syndrome (RLS) is etiologically divided into primary and secondary syndromes.
- Diagnosis of Noonan Syndrome is often difficult because of the high variability of clinical symptoms.
- Silver-Russell syndrome (SRS) is a pre- or post-natal growth retardation disorder caused by (epi)genetic alterations.
- Smith-Lemli-Opitz syndrome (SLOS) belongs to a group of multiple congenital anomaly/developmental delay disorders.
- Peutz-Jeghers syndrome is a familial disease characterized by spots on the lips and intestinal polyposis.
- Ectodermal dysplasia (ED) is a congenital syndrome characterized by abnormal development of ectodermal structures, such as skin, hair, nails, teeth, or salivary glands.
- Bardet Biedl Syndrome (BBS) is a rare, genetically determined syndrome which can result from a mutation in one of 19 known genes (often called BBS complex), which play a vital role in building structures and cell functions of cilia.
- Williams syndrome (WS) is a neurodevelopmental disorder caused by a genomic deletion of 28 genes that results in a cognitive and behavioral profile marked by overall intellectual impairment with relative strength in expressive language and hypersocial behavior.
- The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and upper part (2/3) of the vagina in women showing normal development of secondary sexual characteristics with a normal 46, XX karyotype.