Batten Disease
Batten disease is a very rare condition that is seen in 2 – 4 infants out of every 100,000 newborns in the United States. Read and know all about …
Category: Genetics and Birth Defects
Homocystinuria
Homocystinuria is a rare disorder that has an incidence of approximately 1 in 344,000 people in the world population. Read and know all about the causes, symptoms, diagnosis and …
Myotonic Dystrophy
Myotonic Dystrophy is a highly degenerative muscular condition that affects 1 in every 8,000 people around the world. Read and know what is Myotonic Dystrophy as well as its …
Cystic Hygroma
What is Cystic Hygroma? Cystic hygroma refers to the abnormal lymphatic lesion that mostly develops at birth. It is a congenital defect that can affect any part of the …
Osteopetrosis
Osteopetrosis Definition It is an acute inherited disorder that causes an increase in bone density of sufferers. This is a rare condition. This condition is also known by many …
Agenesis of the Corpus Callosum
What is Agenesis of the Corpus Callosum? It is a rare, congenital birth defect that is characterized by a partial or total absence of the corpus callosum, a broad …
Haemochromatosis
Haemochromatosis is one of the most common genetic conditions in the U.S. Read and know all about the causes, symptoms, diagnosis and treatment of this disease. What is Haemochromatosis? …
Situs Inversus
Situs Inversus is a very rare condition that is marked by “mirror image” positioning of major organs within the human body. Read on to know all about this condition …
Apert Syndrome
Apert Syndrome is a rare condition that leads to physical deformities and abnormalities in mental capacity. Know all about the causes, symptoms, diagnosis and treatment for Apert Syndrome. Here …