Category: Genetics and Birth Defects

Cherubism Definition Cherubism is a rare genetic condition that leads to the prominence of the lower part of the face. The name of the disorder is derived from the …

Alpha 1-Antitrypsin Deficiency (A1AD) is one of the many genetic disorders that hamper the proper functioning of proteins and enzymes within the body. Read on to know all about …

What is Spinal Muscular Atrophy? Spinal Muscular Atrophy (SMA) is a life threatening genetic disorder that is characterized by weakness and muscle damage. In this condition, some nerves in …

Epidermolytic Hyperkeratosis Definition Epidermolytic hyperkeratosis (EHK) is a rare skin disorder arising at birth. It involves the clumping of keratin filaments. It is characterized by generalized erythroderma and severe …

Mullerian Agenesis Definition Mullerian Agenesis (MA) is defined as a hereditary malformation in the genital tract of the female reproductive system, characterized by the absence of uterus and deformity …

Pseudoxanthoma Elasticum Definition Pseudoxanthoma Elasticum (PXE), also known as Grönblad–Strandberg syndrome, is a kind of progressive disorder characterized by mineralization in the elastic fibers of an individual. Mineralization denotes …

Talipes equinovarus (TEV) is a common, but little known developmental disorder of the lower limb. Get to know about this condition in detail, including its symptoms, causes, diagnosis and …

Wolf-Hirschhorn Syndrome is a dreadful condition associated with frequent stillbirths and perinatal deaths. Find out all about the disease, including its causes, symptoms, diagnosis and treatment. Wolf–Hirschhorn Syndrome Definition …

Familial Mediterranean fever is an auto-inflammatory condition with a cyclic pattern of symptoms. Read and learn all about the causes, symptoms, diagnosis and treatment of this ailment. Familial Mediterranean …

Acrodermatitis enteropathica (AE) is a rare condition, typically arising in both breast-fed and bottle-fed infants. Get detailed information about this disease, including its symptoms, causes, diagnosis, and treatment. Acrodermatitis …

Achondroplasia (ACH) is the most common cause of dwarfism and is regarded as one of the oldest known birth problems in humans. Find out more about the condition, including …

Are you suffering from stiffness in your hand muscles after holding some object for a few minutes? If you are, you might be having a genetic disorder known as …

Patent ductus arteriosus (PDA) is a congenital cardiac condition that gives rise to tachycardia and breathing problems, apart from other physical difficulties. What is Patent ductus arteriosus? It is …

Osteopetrosis is a rare bone disorder that is characterized by the bones turning harder and denser in nature. Find out all about this condition, including its causes, symptoms, diagnosis …

Lesh-Nyhan Syndrome (LNS) is a rare inherited disorder that leads to abnormal muscular movement, behavioral changes and a host of other problems. Read on to know more about the …

Ectodermal dysplasia (ED) gives rise to abnormalities in various physical structures like nails, teeth, hair and sweat glands. Inform yourself completely about this condition, including its causes, symptoms, diagnosis …

A rare inherited disease, Homocystinuria gives rise to serious health issues among the inhabitants of US. Get detailed information about this progressive disease, including its causes, symptoms, diagnosis and …