Hypochondroplasia and achondroplasia
Hypochondroplasia is the milder form of a congenital skeletal disorder called achondroplasia, although the two are sometimes treated as separate diseases. This article will discuss these two disorders and elaborate on each of them. What are the symptoms of achondroplasia? Achondroplasia is a form of congenital bone disorder that is familiar to the public. […]
Hypospadias
Hypospadias is a common congenital malformation in which the opening of the urethra (also called the meatus) is not in its regular location but at the underside of the penis. Today, there are several known types of this disease in which hypospadias is a single finding, or as part of a set of symptoms or […]
Familial dysautonomia
Familial dysautonomia, also known as Riley-Day syndrome, or FD, is an inherited disease that affects the sensory nervous system and the autonomic nervous system (responsible for regulating the function of most internal organs). The autonomic nervous system regulates physiologic processes in our body, such as heart rate, respiration rate, blood pressure, body temperature, digestion, and […]
Depression
Depression is a mental health disorder characterized by feelings of sadness, despair, low self-esteem, loss of interest in daily activities, and suicidal thoughts. People with depression experience negative emotions toward others and themselves. Unlike sadness (which is a temporary emotion that manifests in a low mood), the typical symptoms of depression last at least two […]
Gaucher disease type 1
Gaucher disease type 1 Gaucher disease is an inherited lysosomal storage disease. It is caused by a defect in the processing of a metabolite in the body which leads to its accumulation in the lysosome, and to damage to the spleen, liver, and bone marrow. In Gaucher disease, a glycolipid (carbohydrate-attached lipid) called glucocerebroside accumulates […]
Fanconi anemia
Fanconi anemia is a severe genetic disorder with an autosomal recessive inheritance pattern. This disease can occur in people of all ethnicities but has a higher frequency in certain populations. Fanconi anemia group C is more frequent in people of Ashkenazi Jewish descent. Group A is more frequent in people of North African Jewish descent, […]
