by CheckRare Staff | Apr 10, 2020
Fragile X syndrome (FXS) is a genetic condition causing a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed...
by CheckRare Staff | Apr 9, 2020
Cushing’s syndrome is a rare endocrine disorder caused by prolonged exposure of the body’s tissues to high levels of cortisol (a hormone produced by the adrenal gland). It usually affects adults between age 20 and 50 years. Signs and symptoms of...
by CheckRare Staff | Apr 8, 2020
Thrombotic thrombocytopenic purpura (TTP) is a blood disorder characterized by low platelets (i.e., thrombocytopenia), small areas of bleeding under the skin (i.e., purpura), low red blood cell count, and hemolytic anemia. TTP causes blood clots (thrombi) to form in...
by CheckRare Staff | Apr 5, 2020
WAGR syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability. WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary problems (such...
by CheckRare Staff | Jan 7, 2020
Spinal muscular atrophy (SMA) is a rare inherited neuromuscular disorder caused by an inadequate level of the survivor motor neuron (SMN) protein due to mutations in the SMN1 gene. The SMN protein appears to play a role in regulating small nuclear ribonucleoproteins...
