Ochronosis
Ochronosis Definition Ochronosis can be defined as a syndrome that occurs when homogentisic acid accumulates in the connective tissues. The condition was first brought into notice by Rudolf Virchow …
Category: Genetics and Birth Defects
Congenital Hypothyroidism
What is Congenital Hypothyroidism? Congenital hypothyroidism (CH) is a disorder characterized by thyroid hormone deficiency that is present at birth. A complete or partial loss of thyroid functions occurs …
Wiskott Aldrich Syndrome
Wiskott Aldrich Syndrome Definition Wiskott-Aldrich Syndrome (WAS) is a condition which affects blood cells and cells of the immune system. This condition was named first by Wiskott in Germany …
Tracheoesophageal Fistula
Tracheoesophageal fistula is considered to be one of the foremost causes of severe and fatal pulmonary complications. Read on to find out more about the causes, symptoms, diagnosis, and …
Congenital Diaphragmatic Hernia
What is Congenital Diaphragmatic Hernia? Congenital Diaphragmatic Hernia (CDH) is a group of disorders that involve congenital malformation of the diaphragm. A malformed diaphragm lets the abdominal organs push …
Common Variable Immunodeficiency
What is Common Variable Immunodeficiency? Common variable immunodeficiency (CVID) is a cluster of nearly 150 primary immunodeficiencies or PIDs that are characterized by a common group of features that …
Septo-Optic Dysplasia
What is Septo-Optic Dysplasia? Septo-optic dysplasia (SOD) is a very rare disorder that is characterized by the abnormal development of optic disk, pituitary problems as well as agenesis or …
Tyrosinemia
What is Tyrosinemia? Tyrosinemia is an inborn or hereditary disorder involving a metabolic error that is associated with a severe liver disease during infancy. It hinders the natural ability …
Severe Combined Immunodeficiency
Severe Combined Immunodeficiency Definition Severe combined immunodeficiency (SCID) is a type of genetic disorder that is characterized by an absence of the functional T-lymphocytes, which gives rise to a …
Porencephaly
Porencephaly Definition Porencephaly is a very rare form of cephalic disorder that involves encephalomalacia. It is a type of neurological disorder of central nervous system that is characterized with …