The geneticist is a doctor specialized in investigating biologically inherited diseases. This professional is responsible for diagnosing, managing and advising on genetic disorders that can affect individuals and families, using genetic testing and inheritance studies. It is advisable to see a geneticist if there is a family history of hereditary diseases, if unexplained symptoms occur that may have a genetic basis, or if genetic counseling is needed before planning a pregnancy.
Albinism is a hereditary genetic disorder that causes the absence or total reduction of melanic pigment in the eyes, skin and hair.
The cleft palate is a malformation in the fetus during its formation where a separation occurs between the shovel and the lip.
Congenital malformations are anatomical alterations of the fetus during the gestation process, they can be in organs, system, limbs due to genetic inheritance or environmental factors.
Cystic fibrosis is a hereditary disease of the sweat and mucous glands that is generally located in the liver, lungs, pancreas and intestines, etc.
Down syndrome is a genetic disorder produced by an extra chromosome, which causes intellectual disability and physical development disorder.
Hemophilia is a genetic disorder in which blood doesn't clot efficiently leading to excessive bleeding and bruising.
Hirschsprung disease is a congenital disorder characterized by an absence of nerves cells in sections of the large intestine.
Neurofibromas are tumors that form within nerves and appear as lumps on or under the skin.
Neurofibromatosis is the formation of tumors in the brain, spinal cord and nerves. It is considered as a genetic disorder.
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