Genetic Disorders Information Center

A genetic disorder is an abnormality or problem in the genome causing various medical conditions in a person. You will find that the majority of the genetic disorders are rare. Genes are nothing but the foundation of heredity and they are passed from parents to their children. Genes contain all the information needed to make proteins. Genetic disorders or problems with the genes occur as a result of some mutations or changes in the gene(s). These mutations alter the information present in the gene resulting in improper functioning of the protein leading to medical conditions, which are known as Genetic Disorder(s). There are 3 types of genetic disorders: (1) Single-gene disorders (2) Chromosomal disorders. (3) Complex disorders.

Genetic Disorders Information Center

Genetic disorders can be hereditary or non-hereditary. A person's environment and lifestyle also can be responsible for causing these disorders. Not many people know about genetic disorders. One of the reasons for this lack of awareness could be the rarity or the uncommonness of these disorders. In our GENETIC DISORDERS INFORMATION CENTER, we have tried to solve this problem and have covered various genetic disorders with their causes, symptoms, investigations, prognosis and treatment.

Given below is a brief summary on some of the topics which we have covered, such as Bardet-Biedl Syndrome (BBS), C1 Esterase Inhibitor Deficiency, Cohen Syndrome, Familial Mediterranean Fever (FMF), Hereditary Dystopic Lipidosis, Galactosemia, Hemochromatosis, Metachromatic Leukodystrophy, Prader-Willi Syndrome and Sudden Infant Death Syndrome.

For more information on the above topics, please refer to our side menu under our GENETIC DISORDERS INFORMATION CENTER where we have provided all the information in extensive detail.

Bardet-Biedl Syndrome (BBS)

BBS is a genetic condition which affects many major organs of the body, particularly the eyes. Cause of this syndrome is mutations in around 14 different genes. Symptoms are various and depend on the system or organ affected, such as skeletal system symptoms consist of extra toe/ finger, webbing of the fingers and toes. Ophthalmology symptoms include: Retinopathy, poor vision, blindness etc. Cardiovascular system symptoms consist of thickening of the wall of heart septum and chambers. CNS symptoms consist of mental retardation, autistic behavior etc. Diagnosis can be made by metabolic screening, radiological studies and genetic studies. As of now there is no cure or any particular treatment for Bardet-Biedl Syndrome. Symptomatic treatment is done.

For more information on BBS, please refer to the side menu under our GENETIC DISORDERS INFORMATION CENTER.

C1 Esterase Inhibitor Deficiency

Any type of genetic changes or mutations in the C1 inhibitor gene results in C1 inhibitor deficiency. Patients with this condition experience recurrent angioedema, pain, vomiting, diarrhea and syncope. Treatment comprises of medicines to decrease the intensity and frequency of the attacks. Medications to reduce the swellings are also given.

Cohen Syndrome or Pepper Syndrome or Cervenka Syndrome

Cervenka Syndrome is a pathologic genetic disorder which causes decreased muscle tone, mental retardation and facial abnormalities. The cause of this condition is a defective gene in chromosome 8. Symptoms comprise of decreased head and skull size, obesity, neutropenia, low birth weight, hypotonia, strabismus, growth retardation, craniofacial abnormalities, vision abnormalities, hyperextensible joints, seizure disorder and neurological deafness. Diagnosis can be confirmed by genetic molecular analysis, eye examination, blood tests and cardiac tests. There is no cure for Cohen Syndrome and only symptomatic treatment is done.

For a more detailed read, please refer to the side menu under our GENETIC DISORDERS INFORMATION CENTER.

Familial Mediterranean Fever (FMF)

FMF is an inherited inflammatory disorder which causes recurrent and painful inflammation of abdomen, joints, lungs and fever. The cause of Familial Mediterranean Fever is mutations in the MEFV gene. Symptoms consist of fever, chest pain, abdominal pain, syncope, pain and swelling in the joints, constipation, rash, muscle aches, breathlessness, scrotal tenderness and swelling. At present there is no cure for Familial Mediterranean Fever and treatment is done to manage the symptoms and decrease the severity of the attacks.

For more information, please refer to the side menu under our GENETIC DISORDERS INFORMATION CENTER.

Fabry's Disease or Hereditary Dystopic Lipidosis

This is a rare genetic disorder which belongs to a class of hereditary diseases known as Lysosomal Storage Disorders. Fabry's disease is characterized by changes in normal processing of some specific chemicals in the body. The cause of Fabry's Disease is deficiency of an enzyme which is required for metabolizing lipids. Symptoms are burning sensation in the hands, reddish-purple blemishes on the skin, eye problems (corneal cloudiness), decreased sweating, fever and gastrointestinal problems. Treatment comprises of replacement of the deficient enzyme, anticonvulsants to alleviate the pain, metoclopramide for gastrointestinal problems. If the kidneys are also affected, then the patient may need kidney transplantation and dialysis.

For more information on Fabry's Disease, please refer to the side menu under our GENETIC DISORDERS INFORMATION CENTER.


Galactosemia is a pathological inherited disorder where the body cannot metabolize galactose which causes various problems. Causes of galactosemia are enzyme deficiency, dairy products. Symptoms are various and depend on the system affected. Some of the common symptoms of this condition are weight loss, weakness, fatigue and failure to thrive. Treatment comprises of avoiding dairy products and including soy formula, meat-based formula, lactose-free formula and calcium supplements.

Hemochromatosis or Iron Overload

Hemochromatosis is a medical condition where there is accumulation of iron in the body causing damage to different organs and joints. This is an inherited condition. The cause of this condition is a Genetic Mutation which causes problem with iron metabolism resulting in excessive iron buildup in the body. Risk factors for hemochromatosis include: Viral infection, family history, alcoholism, heart attacks, liver dysfunction, diabetes, arthritis, Northern Europe ancestry and being male. Symptoms of hemochromatosis include: Nausea, vomiting, weakness, fatigue, low grade fever, appetite loss, joint pain, diabetes, decreased libido, impotence, heart failure, irregular heartbeat and hepatomegaly. Investigations for hemochromatosis include: Blood tests, liver function test, ESR, serum transferrin saturation test, serum ferritin test, MRI scan, gene mutation testing, liver biopsy and genetic testing. Treatment for hemochromatosis consists of iron chelation therapy, phlebotomy, dietary changes and treatment for the complications is done accordingly.

Metachromatic Leukodystrophy (MLD) or Arylsulfatase A Deficiency

MLD is a neurodegenerative disorder and is a subtype of Lysosomal Storage Diseases. Cause of MLD is deficiency of sulfatide sulfatase, which is a lysosomal enzyme. Symptoms depend on the type of MLD and commonly comprises of: Problems with ambulation, diminished memory, seizures, development delays, reduced attention span and speech impairment. Investigations for diagnosis include: Brain MRI, nerve conduction studies and neuropsychological testing. At present, there is no treatment available for MLD. Bone marrow transplantation or cord blood transplantation helps in stabilizing cognitive function in patients with late infantile or early juvenile type of MLD.

Prader-Willi Syndrome (PWS)

PWS is a complex genetic condition, which is rare and commonly occurs during infancy. Gene mutations are responsible for causing Prader-Willi Syndrome. Symptoms of PWS consist of overeating, hypotonia, learning disabilities, behavioral problems, sleep problems, short stature, extremely fair skin and developmental delays. Treatment comprises of proper nutrition, human hormone replacement therapy, insulin, thyroid hormones and treating sleep disorders.

Sudden Infant Death Syndrome (SIDS) or Crib Death

Sudden infant death syndrome is a condition in which there is sudden death of a newborn for no reason. The cause for SIDS is not known. It is found that SIDS occurs more when infants are asleep. SIDS is a condition where an infant dies suddenly and without any identifiable cause. Risk Factors for SIDS include: Smoking, sleep, pregnancy, genetic predisposition, males, infants below one year and infections.

Sudden Infant Death Syndrome can be prevented by taking precautions such as seeing that the baby sleeps in an appropriate position, breastfeeding the baby, avoiding soft beds and being up to date on immunizations.

For more information on SIDS, please refer to the side menu under our GENETIC DISORDERS INFORMATION CENTER.

Other Genetic Disorders Which are Covered in This Section:

Written, Edited or Reviewed By:


Last Modified On: July 6, 2016

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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