Glossary for Hypoparathyroidism

• 22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
• Acute Pancreatitis: Sudden severe inflammation of the pancreas causing digestive complaints.
• Addison's Disease: A rare progressive hormonal disorder characterized by insufficient production of certain hormones called adrenal corticosteroids.
• Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
• Ataxia -- diabetes -- goiter -- gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
• Autoimmune polyendocrinopathy syndrome, type 1: A very rare autoimmune disorder characterized by autoimmune polyendocrinopathy (APE), candidiasis (C) and ectodermal dysplasia (ED).
• Bangstad syndrome: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
• Barakat syndrome: A rare condition characterized by deafness, kidney disease and insufficiency parathyroid hormone production.
• Bilateral abductor vocal cord paralysis syndrome: A complication that can occur following the removal of the thyroid gland.
• Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
• Cancer: Abnormal overgrowth of body cells.
• Cataracts: Cloudy areas on the eye's cornea interfering with vision.
• Chromosome 10, Monosomy 10p:
• Chromosome 10p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities.
• Chromosome 22q deletion: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 22 is missing. The symptoms or severity may vary somewhat between patients.
• Chromosome 22q deletion syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities.
• Chronic Kidney Disease: Long-term and generally irreversible disease of the kidneys due to infection, obstruction, congenital diseases or generalised diseases causing failure of the kidneys' normal functions.
• Congenital hypoparathyroidism, seizures, growth and mental retardation and unusual facies: A rare syndrome characterized mainly by growth and mental retardation, seizures, unusual facial appearance and congenital hypoparathyroidism.
• Dahlberg syndrome: A rare condition characterized by hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and short end bones in fingers and toes.
• Deletion 10pter: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
• DiGeorge syndrome: 22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid glands which results in lowered immunity low blood calcium levels respectively. Another primary feature is heart defects. Various other variable features are also present. It is not uncommon for patients to have more than one of the 22q11.2 deletion syndrome subtypes which can make diagnosis confusing - other subtypes include Sphrintzen syndrome, Caylor cardiofacial syndrome and CATCH 22.
• DiGeorge's syndrome: Rare form of primary immune deficiency
• Diabetic Diarrhea: Diarrhea that occurs in diabetics as a result of the damage done by diabetes to the digestive system. Digestive system damage is caused by intestinal neuropathy (damage to intestinal nerves) or bacterial overgrowth or both.
• Dubowitz Syndrome: A rare genetic and developmental disorder characterized by infantile eczema, small stature, microcephaly and peculiar facial features.
• Facial grimacing: A facial expression that indicated pain or the feeling of discomfort
• Fahr's Syndrome: A rare neurologic disorder where calcium is deposited in various parts of the brain resulting in progressive loss of motor and mental function.
• Hyperphosphataemia: An increased level of phosphate in the circulation above that which is considered normal
• Hypocalcaemia: Decreased concentration of calcium in the blood.
• Hypocalcemia: Low levels of calcium in the blood
• Hypoparathyroidism -- short stature -- mental retardation: A very rare syndrome characterized mainly by low parathyroid hormone level, short stature and mental retardation.
• Hypoparathyroidism, autoimmune: A rare autoimmune condition characterized by the inflammation of the parathyroid glands and resulting in a deficiency of parathyroid hormones (parathormone). Parathormone helps controls calcium and phosphorus levels in the body. Symptoms become progressively worse as calcium and phosphorus levels become increasingly imbalanced.
• Kenny-Caffey syndrome, Type 1: A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities. Type 1 is inherited in a recessive manner and is caused by a genetic defect located at chromosome 1q42-q43.
• Kenny-Caffey syndrome, Type 2: A very rare inherited skeletal disorder involving thickening of the long bones of the body and head abnormalities.
• Magnesium deficiency: A deficiency in the magnesium stores of the body
• Malabsorption: Failure to digest nutrients properly
• Multiple endocrine abnormalities -- adenylyl cyclase dysfunction: A rare syndrome characterized by an enzyme defect (adenylyl cyclase) and a number of endocrine abnormalities.
• Muscle spasms: Involuntary movement or contraction of muscles without full control
• Papilloedema: Oedema that is located at the optic disc
• Paresthesia: Pins-and-needles or burning-like sensations.
• Paresthesias: Tingling, prickling, numbness or burning sensations
• Parkinson's Disease: Degenerative brain condition characterised by tremor.
• Polyendocrine deficiency syndrome type 2: Multi-endocrine syndrome usually affecting young adults.
• Polyglandular Autoimmune Syndrome: A group of rare genetic disorders characterized by the malfunction of more than one endocrine gland resulting in impaired hormone production. The gland malfunction results from autoimmune damage to the tissue. There are four subtypes of the disorder.
• Pruritus: The sensation of itch
• Pseudohypoparathyroidism: An inherited disorder where the body is unable to respond to the parathyroid hormone even though there are normal levels of it. Impaired bone growth is the main feature of this disorder.
• Tetany: Sensation changes and muscle symptoms from low blood calcium
• Velocardiofacial syndrome: A genetic disorder which can present with a wide range of phenotypic manifestations which has lead to a number of different names being assigned to the various presentations e.g. DiGeorge Syndrome and Cayler Anomaly Face Syndrome. There are nearly 200 different symptoms that can occur and the severity of the condition is also highly variable depending on the nature and severity of the symptoms that are present.
• Vitamin D deficiency: Deficiency of vitamin D

Search Specialists by State and City