Diseases

Osteopetrosis

Osteopetrosis is a rare congenital disorder (present at birth) in which the bones become overly dense. This results from an imbalance between the formation of bone and the breakdown of the bone. There are several types of osteopetrosis of varying severity. Symptoms can include fractures, frequent infections, blindness, deafness, and strokes. Osteopetrosis is also known as Albers-Schonberg Disease, Generalized Congenital Osteosclerosis, Ivory Bones, Marble Bones, Osteosclerosis Fragilis Generalisata

source osteopetrosis

Osteopetrosis autosomal dominant type 1

A very rare dominantly inherited syndrome characterized mainly by increased bone density. The increased bone density results because old bone is not resorbed and replaced with new bone. Only 33 cases in 3 families have been reported. In type I, the increased bone density occurs throughout the body with the skull being the most affected. There is no associated increase in risk of fractures. Many cases are asymptomatic.

Osteopoikilosis

A rare genetic bone disorder characterized by small areas of denser than normal bone which normally produces no symptoms.

Osteoporosis-pseudoglioma syndrome

A rare genetic disorder characterized by early onset of osteoporosis (during childhood) and loss of vision resulting from retinal detachment due to a retinal pseudoglioma (inflammatory eye condition).

Osteosarcoma

Osteosarcoma is a type of bone cancer where cancer cells form in bone tissue, specifically from osteoblasts (cells that make new bone). It’s the most common primary malignant bone tumor, though still relatively rare, accounting for a small percentage of all cancers. Osteosarcoma typically affects the long bones of the arms and legs, particularly near the knee. It’s most common in adolescents and young adults but can occur in older individuals as well. 

osteosarcoma, limb anomalies, and erythroid macrocytosis

OSLAM syndrome (osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow syndrome) is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia. It has been described in three out of nine children from one family. Autosomal dominant inheritance was suggested.

oszder

fqGJXx sxkfxmndrabi, [url=http://kjoxtjgioxau.com/]kjoxtjgioxau[/url], [link=http://diskedbhlbyd.com/]diskedbhlbyd[/link], http://cdzwatshzqdz.com/

Oto-Palatal-digital syndrome

A very rare syndrome characterized a variety of abnormalities including skeletal anomalies, distinctive face and cleft palate. There are two types of the disorder (type 1 and 2) with type 2 being more severe.

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.