Pseudoxanthoma elasticum, (PXE), is an inherited disorder that causes some tissue in the body to become mineralized, that is, calcium [...]
Psoriasis is an immune-mediated disease that causes inflammation in the body and is associated with visible signs of the inflammation [...]
Retinoblastoma is an extremely rare malignant tumor that develops in the nerve-rich layers that line the back of the eyes [...]
Sacral agenesis, also called caudal regression syndrome (SA/CRS), is a rare congenital condition in which the lower part of the [...]
Cute Syndrome refers to SCN8A Epilepsy (also known as SCN8A DEE), a rare disorder that causes a range of symptoms [...]
Sickle cell anemia is one of a group of inherited disorders known as sickle cell disease. It affects the shape [...]
Skeletal dysplasias are a group of disorders characterized by abnormalities of cartilage and bone growth, resulting in abnormal shape and [...]
Smith Lemli Opitz Syndrome (SLOS) is an autosomal recessive disorder, caused by a mutation in the DHCR7 (7-dehydrocholesterol reductase) gene [...]
Smith-Magenis syndrome is a rare chromosomal disorder characterized by a specific pattern of physical, behavioral, and developmental features. It is [...]
Spinal muscular atrophy (SMA) is a group of inherited disorders characterized by a loss of certain nerve cells called motor [...]
Sturge-Weber syndrome (SWS) (encephalotrigeminal angiomatosis) is a congenital, non-familial disorder caused by the GNAQ gene mutation. It is characterized by [...]
Tetrasomy 18p occurs when there is an extra chromosome made of material from the short arm of chromosome 18. Tetrasomy [...]
Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive abnormalities of the head and face. Craniofacial abnormalities [...]
Trisomy 13, also known as Patau Syndrome, occurs when there is an extra copy of chromosome 13.
Trisomy 18, also known as Edward Syndrome, occurs when there is an extra copy of chromosome 18. Trisomy 18 can [...]
Tuberous sclerosis (TSC) is a genetic disorder that causes tumors to form in various organs, primarily the brain, heart, kidney, [...]
Turner syndrome is a chromosomal disorder, in which women have the complete or partial absence of one X chromosome. Characteristics [...]
