Genetic Disorders Information Center: List of Different types of Genetic Disorders
3-M Syndrome is a very rare congenital pathological condition which is characterized by extremely low birth weight of the infant, extremely short stature, craniofacial abnormalities, and certain skeletal abnormalities. Know the causes, symptoms, treatment and diagnosis of 3-M syndrome.
Some of the other names for Adrenoleukodystrophy are adrenomyeloneuropathy, childhood cerebral ALD, and Schilder-Addison complex. There are basically three types of Adrenoleukodystrophy. Know the causes, symptoms, treatment and prognosis of Adrenoleukodystrophy.
Aicardi Syndrome is an extremely rare genetic condition which hampers the development of Corpus Callosum in the brain. Since Aicardi Syndrome is almost always seen in girls hence the mutation is believed to take place in the X chromosome. Know the causes, symptoms, treatment and life expectancy.
In majority of cases, Alexander Disease begins by the time a child reaches 2 years of age. This is called as infantile form of Alexander Disease. In some cases, Alexander Disease strikes when the child is a bit older. This is called juvenile form of Alexander Disease and is quite rare. Know the causes, symptoms, treatment and life expectancy of Alexander Disease.
Alexandria’s Genesis which is characterized by an individual having eyes that are violet or purple in color is an unusual condition which is thought to be caused due to a genetic defect. Is Alexandria’s Genesis real, know its causes and symptoms.
Alpers’ Disease is a progressive condition which causes degeneration of the central nervous system, especially degeneration of the gray matter. Alpers’ Disease is a genetic mutation-related disorder in which the POLG gene gets mutated. Know the causes, symptoms, treatment, survival rate, prognosis, pathophysiology and complications of Alpers’ Disease.
Barth syndrome is an X-linked serious genetic disorder which is inherited in a recessive manner. It is seen only in case of males and not in case of females. Barth syndrome is characterized by a triad of symptoms such as cardiomyopathy, skeletal myopathy and neutropenia. Know the causes, symptoms, treatment, prognosis and pathophysiology of barth syndrome.
Batten diseases is rare but fatal genetic disorder. It is mainly characterized by problems with the nervous system. There is no cure for Batten disease and death is evident. Thus, all forms of Batten disease have poor prognosis and show a short life span. Know the causes, symptoms, treatment, prognosis and pathophysiology of Batten Disease.
Beckwith-Wiedemann Syndrome is a genetic pathological condition in which the infant born is overgrown or in other words significantly larger than what the norm is. Such infants tend to grow much taller than their peers of their age in childhood. Know the causes, symptoms, treatment and prognosis of Beckwith-Weidemann Syndrome.
Bloch-Sulzberger syndrome is a genetic disorder that affects the skin, hair, teeth and the central nervous system. It is an x-linked dominant genetic disorder due to mutation of IKBKG gene (formerly known as NEMO). Know the causes, symptoms, treatment, pathophysiology and complications of Bloch-Sulzberger syndrome.
C1 Esterase Inhibitor Deficiency attacks are often misdiagnosed for anaphylaxis and also the treatment given during anaphylaxis, such as adrenaline, antihistamines and steroids, are ineffective in this case. Know the signs, symptoms, etiology, investigations and treatment.