CHARGE Syndrome

CHARGE syndrome is a complex genetic condition, which affects multiple systems in the body and sensory systems. It is the leading genetic cause of deafblindness worldwide, occurring in approximately 1 in 10,000 births. CHARGE syndrome is most often caused by...

Fragile X Syndrome

Other Names: Marker X syndrome; Martin-Bell syndrome; FRAXA syndrome; Fra(X) syndrome; FXS; X-linked mental retardation and macroorchidism Fragile X Syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and...

Cushing’s Syndrome

Other Names:  Cushing syndrome; Nodular primary adrenocortical dysplasia; Adrenal cortex adenoma; Hypercortisolism; Adrenal hyperfunction resulting from pituitary acth excess; Ectopic adrenocorticotropic hormone syndrome; Hyperadrenocorticism; Ectopic ACTH syndrome...

WAGR Syndrome

Other Names: WAGR Complex; Mental Retardation Syndrome; Wilms Tumor-Aniridia-Gonadoblastoma-Mental Retardation syndrome; Chromosome 11p deletion syndrome; 11p deletion syndrome; AGR triad; Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome....

22q11.2 Deletion Syndrome

Other Names: Chromosome 22q11.2 deletion syndrome; Velocardiofacial syndrome; VCFS; DiGeorge syndrome; Shprintzen syndrome; Sedlackova syndrome; CATCH22; Autosomal dominant Opitz G/BBB syndrome; Conotruncal anomaly face syndrome; Cayler cardiofacial syndrome. 22q11.2...

Sickle Cell Anemia

Other Names: HbS disease; Hemoglobin S Disease; Sickling disorder due to hemoglobin S. Sickle cell anemia is  is an inherited form of anemia — a condition in which there aren’t enough healthy red blood cells to carry adequate oxygen throughout your body,...
  • Sign up
Lost your password? Please enter your username or email address. You will receive a link to create a new password via email.
We do not share your personal details with anyone.