What is the most common hereditary disease

From albinism to cystic kidneys: the most common hereditary diseases

These are the 10 most common hereditary diseases

Cleft lip and palate

The cleft lip and palate is the most common hereditary disease. This disease used to be called 'harelip', but this is perceived as discriminatory. Around 1,500 children are born with a cleft lip and palate. In early pregnancy, parts of the face develop separately and later grow together. People with cleft lip and palate can experience breathing difficulties, feeding problems as babies, speech problems or ear, nose and throat disorders. Many suffer from mental health problems because of teasing.

Cystic kidneys

In the cyst kidneys, a large number of fluid-filled vesicles form on the kidneys. This restricts the filter function. This hereditary disease is a leading cause of chronic kidney failure. Symptoms only appear in adulthood. Often a cure is only possible with a kidney transplant. The cyst kidneys are not to be confused with a kidney cyst. This is a single cyst that is usually classified as a harmless incidental finding.


0.2 percent of newborns suffer from cretinism, the full picture of congenital hypothyroidism. The thyroid doesn't produce enough thyroxine. The metabolism slows down as a result, and deformities such as dwarfism or shortened extremities can occur on the skeleton. The children often have thick tongues, dry skin, speech disorders, hearing loss or deafness. Mental development is delayed.

Alpha-1 antitrypsin deficiency

Alpha1 antirypsin deficiency is an inherited metabolic disease. The serum concentration of alpha-1-antitrypsin in patients is up to 60 percent lower than in healthy people. Patients are more likely to develop emphysema and cirrhosis of the liver.

Neurofibromatosis and cystic fibrosis

Cystic fibrosis

In this metabolic disease, particularly tough mucus forms in the lungs and pancreas. The function of these organs is therefore very limited. Persistent cough and shortness of breath are the symptoms of the disease. Lung tissue is destroyed by inflammation. Infections, inflammations and narrowed bronchi ultimately cause the lungs to fail. Improved treatment options have increased the life expectancy of cystic fibrosis patients. In the past, they often died in adolescence; for newborns today, life expectancy is 45 to 50 years.


Neurofibromatosis is also called Recklinghausen's disease. It is a multi-organ disease that primarily affects the skin and nervous system. So-called 'cafe-au-lait' spots and neurofibromas can be found on the skin. Tumors are common in the central nervous system. Patients may be gifted and suffer from seizures. The eyes and bones are also often affected.

Haemophilia A and B (hemophilia)

Men in particular suffer from hemophilia. The blood clotting of those affected is disturbed. The blood from wounds does not clot or does so slowly. Spontaneous bleeding can also occur without any corresponding injuries. Delayed blood clotting leads to the crust breaking open again and again and the bleeding can only be stopped very slowly or not at all.


This disease is one of the most common inherited metabolic disorders. If left untreated, it can lead to severe intellectual development disorder, epilepsy. The disease can be diagnosed by a simple screening test in newborns. Symptoms can be prevented with a low-protein diet that is started in good time and, ideally, a lifelong diet.

Chorea huntington

This disease is still an incurable hereditary disease of the brain. Movement disorders and psychological symptoms appear around the age of 40, and patients die on average 15 years later.


The term is a collective term for congenital pigment disorders. People with albinism have lighter skin, hair, and eyes. The risk of sunburn and the resulting skin cancer is higher than in healthy people. With complete albinism, visual acuity and spatial vision are also affected. Albinism exists in both humans and animals. Despite the non-treatable metabolic defect, people with albinism can lead a largely normal life with the help of magnifying glasses, sunglasses or contact lenses and appropriate skin protection.