Glossary for Sanderson-Fraser syndrome

• Alveolar soft part sarcoma: A rare slow-growing malignant connective tissue tumor. The tumors occur most frequently in the arms and legs. The deep soft tissue of the thigh, tongue, eye orbit, and head and neck regions are also common sites. Metastasis is frequent with lung and brain being most common metastatic sites. Symptoms are determined by the location, size and stage of the tumor.
• Axenfeld-Rieger anomaly -- hydrocephaly -- skeletal abnormalities: A rare syndrome characterized mainly by skeletal abnormalities, excess fluid inside the skull and eye anomalies.
• Bulging eyes: Bulging or protruding eyes
• Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
• Congenital conditions -- physical defects: Congenital (birth) defects causing a physical structure defect (rather than metabolic).
• Dermoid cyst: Benign cystic tumor often containing skin, hair, and other tissue
• Eccentrochondrodysplasia: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down.
• Eye and vision conditions: Medical conditions affecting the eyes or the vision systems.
• Graves Disease: is an autoimmune disease characterized by hyperthyroidism due to circulating autoantibodies. Thyroid-stimulating immunoglobulins (TSIs) bind to and activate thyrotropin receptors, causing the thyroid gland to grow and the thyroid follicles to increase synthesis of thyroid hormone.
• Head Conditions: Conditions that affect the head
• Injury: Any damage inflicted in the body
• Jaw symptoms: Symptoms affecting the jaw
• Keratitis: Any inflammation of the cornea of the eye
• Lowry-Maclean syndrome: A very rare syndrome characterized mainly by mental retardation, retarded growth, glaucoma, congenital heart defects and premature fusion of skull bones.
• Meninges cancer: A disorder where a cancerous malignancy is found in the meninges of the brain
• Mouth conditions: Any condition that affects the mouth
• Neu-Laxova Syndrome: A rare fatal genetic disorder characterized by microcephaly and multiple congenital abnormalities. Death occurs during the fetal or newborn stage.
• Nodulosis-arthropathy-osteolysis syndrome: A rare syndrome characterized by joint disease, loss of bone mineral density and nodulosis.
• Optic nerve disorder: Any condition which impairs the function of the optic nerve. Examples of such conditions includes glaucoma, optic nerve inflammation and impaired blood supply to the optic nerve.
• Penis conditions: Any condition that affects the penis
• Periorbital Cellulitis: Bacterial infection of the superficial tissues surrounding the eyes, often following a conjunctivitis or middle ear infection
• Polyarteritis nodosa: A serious blood vessel disease where small and medium-sized arteries become swollen and damaged and are unable to adequately supply oxygenated blood to various tissues in the body. The disease can occur in a mild form or a serious, rapidly fatal form.
• Rhabdomyosarcoma, embryonal: A type of cancer that arises from rhabdomyoblasts which are immature muscle cells. The tumors can occur arise from muscle tissue almost anywhere in the body but in the embryonal form, tends to occur primarily in the head, neck and genitourinary areas. Symptoms depend on size and location of the tumor.
• Rhabdomyosarcoma, embryonal 1: A type of cancer that arises from rhabdomyoblasts which are immature muscle cells. The tumors can occur arise from muscle tissue almost anywhere in the body but in the embryonal form, tends to occur primarily in the head, neck and genitourinary areas. Symptoms depend on size and location of the tumor. There are two subtypes of this cancer with main difference lying in the genetic origin of the disease. Type 1 is linked to a defect on chromosome 11p15.5.
• Rhabdomyosarcoma, embryonal 2: A type of cancer that arises from rhabdomyoblasts which are immature muscle cells. The tumors can occur arise from muscle tissue almost anywhere in the body but in the embryonal form, tends to occur primarily in the head, neck and genitourinary areas. Symptoms depend on size and location of the tumor. There are two subtypes of this cancer with main difference lying in the genetic origin of the disease. Type 1 is linked to a defect on chromosome 11p15.5.
• Sexual Conditions: Any condition that affects sexual function
• Sinusitis: Sinusitis is an inflammation of the paranasal sinuses.
• Small head: The occurrence of a head which is smaller than normal
• Sturge-Weber Syndrome: A rare genetic disorder characterized by excessive blood vessel growth, calcium accumulation inside the brain and seizures.
• Thyroid eye disease: Thyroid eye disease is an autoimmune eye condition that, while separate from thyroid disease, is often seen in conjunction with Graves' Disease.
• Tumor: Any type of lump or swelling (not just cancers)
• Undescended testes: A condition which is characterized by the failure of the testes to descend into the scrotum
• Vagneur Triolle Ripert syndrome: A condition that is characterised by lymphoedema of the lower extremities and recurrent respiratory system problems
• Wegener's granulomatosis: A rare disease involving blood vessel inflammation which can affect the blood flow to various tissues and organs and hence cause damage. The respiratory system and the kidneys are the main systems affected.

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