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Hereditary disorders

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Hyperdontia

Hyperdontia is the condition of having supernumerary teeth, or teeth that appear in addition to the regular number of teeth. They can appear in any area of the dental arch and can affect any dental organ. The opposite of this condition is hypodontia, where there is a congenital lack of teeth. This is seen more commonly than hyperdontia. The scientific definition of hyperdontia is "any tooth or odontogenic structure that is formed from tooth germ in excess of usual number for any given region of the dental arch” They can be a lot of teeth or not many teeth and can occur on any place in the dental arch. They may be symmetrical or non-symmetrical.

 
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Polycystic ovary syndrome

Polycystic ovary syndrome (PCOS) is a set of symptoms due to elevated androgens in females. Signs and symptoms of PCOS include irregular or no menstrual periods, heavy periods, excess body and facial hair, acne, pelvic pain, difficulty getting pregnant, and patches of thick, darker, velvety skin. Associated conditions include type 2 diabetes, obesity, obstructive sleep apnea, heart disease, mood disorders, and endometrial cancer.

 
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Down syndrome

Down syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is typically associated with physical growth delays, characteristic facial features, and mild to moderate intellectual disability. The average IQ of a young adult with Down syndrome is 50, equivalent to the mental ability of an 8 or 9-year-old child, but this can vary widely.

 
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Gout

Gout is a form of inflammatory arthritis characterized by recurrent attacks of a red, tender, hot, and swollen joint. Pain typically comes on rapidly in less than twelve hours. The joint at the base of the big toe is affected in about half of cases. It may also result in tophi, kidney stones, or urate nephropathy.

 
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Ménière's disease

Ménière's disease (MD) is a disorder of the inner ear that is characterized by episodes of feeling like the world is spinning (vertigo), ringing in the ears (tinnitus), hearing loss, and a fullness in the ear. Typically only one ear is affected, at least initially; however, over time both ears may become involved. Episodes generally last from 20 minutes to a few hours. The time between episodes varies. The hearing loss and ringing in the ears may become constant over time.

 
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Tourette syndrome

Tourette syndrome is a common neuropsychiatric disorder with onset in childhood, characterized by multiple motor tics and at least one vocal (phonic) tic. These tics characteristically wax and wane, can be suppressed temporarily, and are typically preceded by an unwanted urge or sensation in the affected muscles. Some common tics are eye blinking, coughing, throat clearing, sniffing, and facial movements. Tourette's does not adversely affect intelligence or life expectancy.

 
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Obsessive–compulsive disorder

Obsessive–compulsive disorder (OCD) is a mental disorder where people feel the need to check things repeatedly, perform certain routines repeatedly, or have certain thoughts repeatedly. People are unable to control either the thoughts or the activities for more than a short period of time. Common activities include hand washing, counting of things, and checking to see if a door is locked. Some may have difficulty throwing things out. These activities occur to such a degree that the person's daily life is negatively affected. This often takes up more than an hour a day. Most adults realize that the behaviors do not make sense. The condition is associated with tics, anxiety disorder, and an increased risk of suicide.

 
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Triple X syndrome

Triple X syndrome, also known as trisomy X and 47,XXX, is characterized by the presence of an extra X chromosome in each cell of a female. Those affected are often taller than average. Usually there are no other physical differences and normal fertility. Occasionally there are learning difficulties, decreased muscle tone, seizures, or kidney problems.

 
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Klinefelter syndrome

Klinefelter syndrome (KS) also known as 47,XXY or XXY, is the set of symptoms that result from two or more X chromosomes in males. The primary features are infertility and small testicles. Often, symptoms may be subtle and many people do not realize they are affected. Sometimes, symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less body hair, breast growth, and less interest in sex. Often it is only at puberty that these symptoms are noticed. Intelligence is usually normal; however, reading difficulties and problems with speech are more common. Symptoms are typically more severe if three or more X chromosomes are present.

 
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Gastroesophageal reflux disease

Gastroesophageal reflux disease (GERD), also known as acid reflux, is a long-term condition where stomach contents come back up into the esophagus resulting in either symptoms or complications. Symptoms include the taste of acid in the back of the mouth, heartburn, bad breath, chest pain, vomiting, breathing problems, and wearing away of the teeth. Complications include esophagitis, esophageal strictures, and Barrett's esophagus.

 
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Prader–Willi syndrome

Prader–Willi syndrome (PWS) is a genetic disorder due to loss of function of specific genes. In newborns symptoms include weak muscles, poor feeding, and slow development. Beginning in childhood the person becomes constantly hungry which often leads to obesity and type 2 diabetes. There is also typically mild to moderate intellectual impairment and behavioral problems. Often the forehead is narrow, hands and feet small, height short, skin light in color, and those affected are unable to have children.

 
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Heterochromia iridum

Heterochromia is a difference in coloration, usually of the iris but also of hair or skin. Heterochromia is determined by the production, delivery, and concentration of melanin. It may be inherited, or caused by genetic mosaicism, chimerism, disease, or injury. It occurs in humans and certain breeds of dogs and cats.

 
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Hiatal hernia

A hiatal hernia is a type of hernia in which abdominal organs slip through the diaphragm into the middle compartment of the chest. This may result in gastroesophageal reflux disease (GERD) or laryngopharyngeal reflux (LPR) with symptoms such as a taste of acid in the back of the mouth or heartburn. Other symptoms may include trouble swallowing and chest pains. Complications may include iron deficiency anemia, volvulus, or bowel obstruction.

 
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Angelman syndrome

Angelman syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, speaking problems, balance and movement problems, seizures, and sleep problems. Children usually have a happy personality and have a particular interest in water. The symptoms generally become noticeable by one year of age.

 
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Tetralogy of Fallot

Tetralogy of Fallot (TOF) is a type of heart defect present at birth. Symptoms include episodes of bluish color to the skin. When affected babies cry or have a bowel movement, they may develop a "tet spell" where they turn very blue, have difficulty breathing, become limp, and occasionally lose consciousness. Other symptoms may include a heart murmur, finger clubbing, and easy tiring upon breastfeeding.