Anophthalmia
Anophthalmia Definition Anophthalmia, also referred to as Anophthalmos, is a congenital defect that leads to absence of the eyes in a newborn. It is a very rare condition characterized …
Category: Genetics and Birth Defects
Paroxysmal Nocturnal Hemoglobinuria
Paroxysmal Nocturnal Hemoglobinuria (PNH) is a serious health condition that destroys the blood cells and can even turn fatal if not treated. Read on to find out about the …
Hip Dysplasia in Infants
What is Hip Dysplasia in Infants? Hip Dysplasia, also known as the Developmental Dysplasia of the Hip (DDH), is a hip joint deformation which is usually present at birth …
Robinow Syndrome
What is Robinow Syndrome? It is an extremely rare inherited disorder which affects different parts of the body by disrupting the skeletal development. The condition is characterized by various …
Ectrodactyly
What is Ectrodactyly? It is a genetic disorder caused by the deficiency of one or more digits of the hand or foot which are central in nature. The disorder …
Genu Varum
Genu Varum (GVR) is a knee disorder which may lead to outward bowing of the legs while standing, giving them the appearance of a bow. Find out all about …
Acute Intermittent Porphyria
Acute Intermittent Porphyria Definition Acute Intermittent Porphyria (AIP) is a form of hereditary hepatic Porphyria. There are various types of Porphyria that affects people all around the world and …
Mullerian Agenesis
What is Mullerian Agenesis? Mullerian Agenesis, abbreviated as MA, is a disorder marked by congenital malformation. It is characterized by an inability of the mullerian ducts to develop properly. …
Abetalipoproteinemia
Abetalipoproteinemia (ABL) is a rare hereditary disorder associated with fat metabolism. Know what it is, its occurrence, causes, symptoms, diagnosis and treatment, and also glance over other vital information …
Familial hypercholesterolemia
Are you suffering from small, waxy and elevated yellowish deposits on the arms, legs, or around the eyelids along with severe chest pain? Watch out, for these are signs …