Metachromatic Leukodystrophy
Metachromatic Leukodystrophy (MLD) is a rare genetic disorder that leads to progressive deterioration of the functioning of the brain and the nerves. Find out all about this disease, including …
Category: Genetics and Birth Defects
Hirschsprung Disease
Hirschsprung Disease (HD) is a digestive disorder characterized by swollen abdomen, constipation and failure to defecate in children. Get detailed about the causes, symptoms, diagnosis and treatment of this …
Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann Syndrome (BWS) is a rare pediatric overgrowth disorder marked by excessive growth of infants affected by the disorder. Find out everything about this abnormal congenital disease, including its …
Neural tube defects
A congenital neurological defect, Neural tube defect (NTD) is a complicated condition that gives rise to multiple problems like structural malformations and paralysis. Read and know more about the …
Encephalocele
Encephalocele is a life-threatening birth defect that is a subject of many medical researches today. Read and find out all about the disorder, including its causes, symptoms, treatment and …
Adrenoleukodystrophy
Are you suffering from regular muscle stiffness or having partial memory loss? You could be suffering from Adrenoleukodystrophy. Read and know more about the symptoms, causes, diagnosis, treatment and …
Expressive Language Disorder
Expressive language disorder (ELD) is a childhood condition that reportedly affects round 3-10% of all children of school-going age. Read to know more about the causes, symptoms, diagnosis and …
Pancolitis
Pancolitis is a common inflammatory condition of the intestine that affects around 20-40% of people suffering from Ulcerative Colitis. Learn all about the causes, symptoms, diagnosis, treatment and diet …
Noonan Syndrome
Noonan Syndrome is a complicated condition that is regarded as a type of dwarfism. Read on to know what is Noonan Syndrome as well as its causes, symptoms, diagnosis …
Charcot marie tooth disease
Charcot marie tooth disease is a dreaded disorder that annually affects around 150,000 people in the U.S. Read on to know more about the condition, including its causes, symptoms, …
Treacher Collins Syndrome
Have you ever seen a newborn with abnormal ears, small jaw and a large nose? He or she might possibly be suffering from a condition known as Treacher Collins. …
Prader Willi Syndrome
Prader Willi Syndrome (PWS) is a rare condition that causes extreme hunger and affects one in 10,000 to 30,000 individuals of the population. Read on to know more about …
Hyperhomocysteinemia
Hyperhomocysteinemia Definition It is a medical disorder that is marked by an unusual increase of homocysteine levels in the bloodstream. It is a rare disease that affects less than …
Hartnup Disease
Hartnup Disease Definition It is an acquired metabolic disease that has an impact on the metabolism of essential vitamins in the body. It affects the transfer of some amino …
Hyperammonemia – Causes, Symptoms, Diagnosis and Treatment
What Is Hyperammonemia? It is a metabolic disorder which results from a high level of ammonia in the bloodstream. It is a serious condition that may give rise to …
Primordial Dwarfism – Causes, Pictures, Treatment and Life Expectancy
Primordial Dwarfism Definition It is a type of dwarfism that leads to a smaller body stature at all stages during the life of a person, beginning from birth. It …
Canavan Disease
Canavan Disease is one of the most common chronic cerebral disorders that affect humans who are in their infancy. Read on to know all about the causes, symptoms, diagnosis …
Wilson Disease
Are you suffering from tremors, muscular stiffness and difficulties in speaking properly? Look out, for you may be having a condition called Wilson Disease. Read and know all about …
Harlequin Ichthyosis
Harlequin Ichthyosis is a rare disease that gives rise to life-threatening conditions in sufferers. Read on to know about the causes, symptoms and treatment of this condition. There are …
Clubfoot
Clubfoot is a defective condition that affects many infants around the world every year. Read on to know all about this disorder as well as its causes, symptoms, diagnosis …
Niemann-Pick Disease
Niemann-Pick Disease is a rare hereditary condition that affects 1 in 15,000 people but can be extremely life-threatening. Read and know what Niemann-Pick Disease is as well as its …
Osteogenesis Imperfecta (Brittle Bone Disease)
Osteogenesis Imperfecta is a rare hereditary condition that is a serious cause of concern for sufferers as well as their family members. Read on to know all about the …
Triploidy – Causes, Symptoms, Diagnosis and Treatment
Triploidy is a chromosomal disorder that is regarded as a nightmare for expecting parents. Read on to know what is Triploidy syndrome and learn more about this rare disease. …
Tay Sachs Disease Information, Pictures, Symptoms and Treatment
Do you know a baby who is showing reclusive signs? Is he making less eye contact with you? The child may be having Tay Sachs Disease, for these are …
Fetal Alcohol Syndrome – Pictures, Symptoms, Statistics and Treatment
Enjoying a drink while thinking about the baby in your tummy? Watch out! Even that small peg you are having can develop Fetal Alcohol Syndrome (FAS) in your child. …