Diseases

Oto-Palato-digital syndrome type 1

Otopalatodigital syndrome type 1 is a disorder primarily involving abnormalities in skeletal development. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 2, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits).

Oto-palato-digital syndrome- type 2

Otopalatodigital syndrome type 2 is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits). Otopalatodigital syndrome type 2 also tends to cause problems in other areas of the body, such as the brain and heart.

Otodental dysplasia

A very rare syndrome characterized mainly by ear and tooth abnormalities. The back teeth are large and have bulbous crowns without the normal grooves and features.

Otoonychoperoneal syndrome

A very rare syndrome characterized mainly by underdeveloped ears and nails, shoulder anomalies and straight collarbones.

Otosclerosis

Otosclerosis is the abnormal growth of bone of the middle ear. This bone prevents structures within the ear from working properly and causes hearing loss. For some people with otosclerosis, the hearing loss may become severe.

Ouvrier Billson syndrome

A rare eye disorder where the patient has periods of upward deviated eyes with neck flexion involving a downward pointing chin to try to compensate for the abnormal eye position. The symptoms are worse during the day and nighttime and sleep often alleviates the condition. The condition doesn't deteriorate over time and eventually improves.

Ovarian cancer

Ovarian cancer is a cancer that begins in an ovary. It results in abnormal cells that have the ability to invade or spread to other parts of the body. When this process begins, symptoms may be vague or not apparent, but they become more noticeable as the cancer progresses. These symptoms may include bloating, pelvic pain, and abdominal swelling, among others. Common areas to which the cancer may spread include the lining of the abdomen, lining of the bowel and bladder, lymph nodes, lungs, and liver.

The risk of ovarian cancer increases in women who have ovulated more over their lifetime. This includes those who have never had children, those who begin ovulation at a younger age or reach menopause at an older age. Other risk factors include hormone therapy after menopause, fertility medication, and obesity. Factors that decrease risk include hormonal birth control, tubal ligation, and breast feeding. About 10% of cases are related to inherited genetic risk; women with mutations in the genes BRCA1 or BRCA2 have about a 50% chance of developing the disease.
The most common type of ovarian cancer, comprising more than 95% of cases, is ovarian carcinoma. There are five main subtypes of ovarian carcinoma, of which high-grade serous is most common. These tumors are believed to start in the cells covering the ovaries, though some may form at the Fallopian tubes. Less common types of ovarian cancer include germ cell tumors and sex cord stromal tumors. A diagnosis of ovarian cancer is confirmed through a biopsy of tissue, usually removed during surgery.

Screening is not recommended in women who are at average risk, as evidence does not support a reduction in death and the high rate of false positive tests may lead to unneeded surgery, which is accompanied by its own risks. Those at very high risk may have their ovaries removed as a preventive measure. If caught and treated in an early stage, ovarian cancer may be curable. Treatment usually includes some combination of surgery, radiation therapy, and chemotherapy. Outcomes depend on the extent of the disease and the subtype of the cancer present. 

Ovarian dwarfism

Rare chromosomal genetic syndrome with one X chromosome and no second sex chromosome (X or Y). People are female as there is no male Y chromosome.

Ovarian epithelial cancer

Ovarian epithelial cancer is a subtype of ovarian cancer. Ovarian cancer is a cancer that begins in an ovary. It results in abnormal cells that have the ability to invade or spread to other parts of the body. When this process begins, symptoms may be vague or not apparent, but they become more noticeable as the cancer progresses. These symptoms may include bloating, pelvic pain, and abdominal swelling, among others. Common areas to which the cancer may spread include the lining of the abdomen, lining of the bowel and bladder, lymph nodes, lungs, and liver.

The risk of ovarian cancer increases in women who have ovulated more over their lifetime. This includes those who have never had children, those who begin ovulation at a younger age or reach menopause at an older age. Other risk factors include hormone therapy after menopause, fertility medication, and obesity. Factors that decrease risk include hormonal birth control, tubal ligation, and breast feeding. About 10% of cases are related to inherited genetic risk; women with mutations in the genes BRCA1 or BRCA2 have about a 50% chance of developing the disease.

Ovarian insufficiency- familial

A rare inherited disorder where the ovaries fail to function normally despite normal levels of hormones that stimulate ovarian activity. Ovarian failure is a normal phase of aging and is associated with menopause but it is termed ovarian insufficiency when it occurs in a female under the age of 40

Ovarian low malignant potential tumor

Ovarian low malignant potential tumor is a disease in which abnormal cells form in the tissue covering the ovary. Ovarian low malignant potential tumors have abnormal cells that may become cancer, but usually do not. This disease usually remains in the ovary. When disease is found in one ovary, the other ovary should also be checked carefully for signs of disease.

Ovarian remnant syndrome

A rare condition where ovarian tissue is left in the pelvic cavity following the removal of ovaries and fallopian tubes causes pelvic pain. The tissue that is left behind can form cysts which can enlarge and pull on nearby adhesions causing pain. Pain can also occur when remaining ovarian tissue produces hormones that stimulate endometriosis

Overfolded helix

An abnormal ear appearance where the upper edge of the ear is folded over to a greater degree than normal

Overgrowth syndrome type Fryer

A rare disorder involving excessive growth resulting in a large birth size and excessive growth following birth. Adults with this disorder also tend to be excessively tall.

Overhydrated hereditary stomatocytosis

A rare disorder where abnormal red blood cell membranes fail to regulate movement of sodium and potassium into and out of the red blood cell. The red blood cell accumulates too much salt and water which causes it to burst. Destruction of red blood cells leads to anemia. The red blood cells are abnormally shaped and resemble a stoma or mouth

Oxalosis

A rare inherited metabolic disorder where excess oxalic acid forms crystals which make up urinary stones. In type I primary hyperoxaluria there is a deficiency of peroxisomal alanine-glyoxalate aminotransferase and type II involves a deficiency of the enzyme glyoxylate reductase/hydroxypyruvate reductase.

Pachydermoperiostosis

A rare genetic ectodermal disorder characterized by thick coarse skin and limb clubbing.

Pachygyria

Pachygyria (from the Greek "pachy" meaning "thick" or "fat" gyri) is a congenital malformation of the cerebral hemisphere. It results in unusually thick convolutions of the cerebral cortex. Typically, children have developmental delay and seizures, the onset and severity depending on the severity of the cortical malformation. Infantile spasms are common in affected children, as is intractable epilepsy.

Pachygyria- frontotemporal

A recessively inherited disorder characterized by abnormal brain development (pachygyria), mental retardation and various other abnormalities.

Pachyonychia Congenita

PC is an ultra rare genetic skin disorder caused by a single mutation in one of at least four keratin genes including K6a, K6b, K16 or K17. PC may be hereditary (inherited from a parent who has PC) or may be spontaneous (a mutation occuring when no parent or other family member has PC).

Pacman dysplasia

A rare syndrome characterized by abnormal bone development primarily affecting the long bones and lower spine.

Paget disease

Paget disease of bone is a disorder that involves abnormal bone destruction and regrowth, which results in deformity. This condition can affect any of the bones in the body; but most people have it in their spine, pelvis, skull, or leg bones. The disease may affect only one bone or several bones; but it does not affect the entire skeleton. Bones with Paget disease may break more easily, and the disease can lead to other health problems. The cause of Paget disease is unknown, although it may be associated with faulty genes or viral infections early in life.