Genetic Disorders Information Center: List of Different types of Genetic Disorders
Asphyxiating thoracic dystrophy is a rare genetic recessive syndrome where the restrictive small thoracic cage is still not properly developed. This prevents the lungs from developing and expanding as required for respiratory functioning. This is why infants born with this condition die within the first year of their lives. Treatment for asphyxiating thoracic dystrophy can be done through the method of expansion thoracoplasty, which is done with the help of various surgical strategies.
Desbuquois Syndrome (DBQD) is a very rare condition and type of osteochondrodysplasia. There are two types of Desbuquios Syndrome. They are named as Type 1 and Type 2. Desbuquois Syndrome is a very rare type of syndrome and a congenital disorder. Treatment of Desbuquois Syndrome is based on the particular symptoms which the patient is suffering from or is present in an individual.
Neuroblastoma may have a familial origin, but these cases are extremely rare. Read on to know more.
Alstrom-Hallgren Syndrome is a very unique genetic disorder. Only about 266 cases have been reported in 47 countries. Alstrom-Hallgren syndrome is caused by a faulty ALMS1 gene. A gene is a physical and functional unit of heredity. Alstrom-Hallgren Syndrome can be diagnosed based on symptoms, family and medical history of the individual. Treatments to lessen the symptoms of Alstrom-Hallgren Syndrome greatly help to improve the quality of life and prevent complications in the future. Most of the Alstrom-Hallgren Syndrome patients do not live beyond 50 years.
Cat Eye Syndrome also known as Schmid-Fraccaro Syndrome is a very rare disease. It is a very serious chromosomal disease caused when chromosome 22 is present 3 or 4 times where originally it should be 2. It may affect many parts of the body like eyes, ears, heart, and kidneys. Know the causes, symptoms, treatment and diagnosis of Cat Eye Syndrome.
Atelosteogenesis is a disease which affects small children and infants in common. This disease usually affects the development of bones in the body of children. Atelosteogenesis is further bifurcated into three types: Atelosteogenesis type I, Atelosteogenesis type II and Atelosteogenesis type III. All of these diseases affect the bones of the children and can also have an effect throughout the body. Know the causes, symptoms, treatment and diagnosis of Atelosteogenesis.
Alagille-Watson Syndrome affects both male and female equally and is a genetic disorder resulting from the mutation in certain genes. It affects many different parts of the body which in most cases also includes the liver. Alagille-Watson Syndrome also affects other parts of the body like the brain, kidneys, heart, eyes, face, blood vessels and even the skeleton. Know the causes, symptoms, treatment, and prognosis of Alagille-Watson Syndrome.
AEC Syndrome is the acronym for Ankyloblepharon- Ectodermal defects-cleft lip/ palate (AEC) syndrome. It is additionally termed as the Hay-Wells Syndrome or Ankyloblepharon- ectodermal dysplasia- cleft lip syndrome or Rapp- Hodgkin syndrome. Know the causes, symptoms, treatment and diagnosis of AEC Syndrome.
African Siderosis is the outcome of excessive consumption of iron through the intake of high amount of beer brewed at home produced in some pots or drums made of iron. The African Siderosis is quite widespread among both the urban and rural black masses of the African population. Know the causes, symptoms, treatment and diagnosis of African Siderosis.
Acromicric Skeletal Dysplasia is a very rare inherited disorder (bone dysplasia) affecting normal bone growth. It is believed to be caused by mutations in the FBN1 gene and inherited in an autosomal dominant manner. Here "Autosomal" means the gene is a non-sex chromosome and "Dominant" means that a single copy of the mutated gene is enough to cause the disease. Know the causes, symptoms, treatment and diagnosis of Acromicric Skeletal Dysplasia.
Acrodysostosis is a rare form of a genetic disorder in which bone growth is primarily affected and is present in the child since birth. Both male and female part of the population is equally affected by Acrodysostosis. The mutation in the PRKAR1A gene or the PDE4D gene is primarily responsible for causing Acrodysostosis. One of the major symptoms of Acrodysostosis is the visual deformations on the body. The bones are not well-formed; they are short, thick and abnormal. The treatment for Acrodysostosis can be determined only upon the particular symptoms that the individual is showing up.
Acrodermatitis Enteropathica is a rare autosomal recessive disorder which is inherited or acquired genetically. The main reason for the disorder is the mutation of the gene SLC39A4 in chromosome 8q24.3 which is responsible for the encoding of the membrane protein which binds the zinc enzyme. Learn about the causes, symptpoms, treatment, diagnosis and case study of Acrodermatitis Enteropathica.
Fibers, fresh fruits, vegetables should be included and sodium, complex carbohydrates should be avoided in hunter syndrome.