Tooth and nail syndrome is a rare genetic disorder that belongs to a group of diseases known as ectodermal dysplasia, which group consists of more than 100 separate recognized syndromes. Ectodermal dysplasias typically affect the teeth, nails, hair, and/or skin.
A genetic , X-linked condition characterized by the congenital absence of teeth. The number of teeth absent is variable.
A familial condition involving low blood fibrinogen levels. Fibrinogen is an important factor in blood coagulation. As there is still some fibrinogen present, bleeding problems are usually only mild
An immunodeficiency disorder involving low blood gamma globulin levels which results in an increased susceptibility to infections. The condition may be inherited or can be caused by certain drugs (levamisole, hydantoin and carbamazepine).
Hypogonadotropic hypogonadism without anosmia, X-linked: A rare X-linked disorder involving a deficiency of sex hormones (leutinizing and follicle-stimulating hormone). It is similar to Kallman syndrome but the sense of smell is preserved.
Hypokalemia refers to the condition in which the concentration of potassium in the blood is low. The prefix hypo- means low (contrast with hyper-, meaning high). Kal refers to kalium, the Neo-Latin for potassium, and -emia means "in the blood." Normal serum potassium levels are between 3.5 to 5.0 mEq[1]; at least 95% of the body's potassium is found inside cells, with the remainder in the blood. This concentration gradient is maintained principally by the Na+/K+-ATPase pump
A rare genetic disorder of kidney metabolism characterized by reduced blood acidity and low potassium levels
Hypokalemic periodic paralysis is an inherited disorder that causes occasional episodes of muscle weakness. It is one of a group of genetic disorders that includes hyperkalemic periodic paralysis and thyrotoxic periodic paralysis
Hypolipoproteinemia is defined as a lack of lipoprotein in the blood due to genetic or other diseases such as malnutrition and malabsorption.
Hypomagnesemia primary: Low blood magnesium levels which is caused by the abnormal absorption and excretion of the mineral and can be caused by such things as kidney problems and intestinal malabsorption.
Hypomandibular faciocranial dysostosis: A very rare syndrome characterized mainly by very underdeveloped upper and lower jaw as well as a very small, absent or small tongue.
Hypomelanotic disorder: Lack of pigmentation.
Hypomelia - mullerian duct anomalies: A rare genetic disorder characterized by severely underdeveloped arms and uterine and vaginal abnormalities.
Hypoparathyroidism is is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). PTH plays a key role in regulating and maintaining a balance of your body's minerals, namely calcium and phosphorus.
The low production of PTH in hypoparathyroidism leads to abnormally low ionized calcium levels in your blood and bones and to an increase of serum phosphorus. Current treatment consists of taking supplements to normalize your calcium and phosphorus levels.
Hypoparathyroidism familial isolated: A rare familial condition involving low levels of parathyroid hormone which upsets the body's ability to regulate calcium and phosphate. The severity of symptoms is determined by the how low the parathyroid hormone level is.
Hypoparathyroidism - short stature - mental retardation: A very rare syndrome characterized mainly by low parathyroid hormone level, short stature and mental retardation.
Hypoparathyroidism X-linked: Low parathyroid levels inherited in a X-linked manner and hence only males are symptomatic and females are asymptomatic carriers.
Hypopharyngeal cancer is a disease that occurs when cancerous (malignant) cells develop in the tissues of the hypopharynx.
Hypophosphatasia (HPP) is a genetic condition that causes abnormal development of the bones and teeth. The severity of HPP can vary widely, from fetal death to fractures that don't begin until adulthood. Signs and symptoms may include poor feeding and respiratory problems in infancy; short stature; weak and soft bones; short limbs; other skeletal abnormalities; and hypercalcemia. Complications can be life-threatening. The mildest form of the condition, called odontohypophosphatasia, only affects the teeth. HPP is caused by mutations in the ALPL (alkaline phosphatase) gene. Perinatal (onset before birth) and infantile HPP are inherited in an autosomal recessive manner. The milder forms, especially adult forms and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner. While treatment has always been symptomatic and supportive, recently an enzyme replacement therapy (ERT) called asfotase alfa has been show to improve bone manifestations people with childhood onset HPP.
Hypophosphatemic rickets: A rare genetic type of rickets involving defective phosphate transport and vitamin D metabolism in the kidneys. Poor calcium absorption from the intestines leads to bone softening.
Oculocerebral Syndrome with Hypopigmentation is an extremely rare inherited disorder characterized by the lack of normal color (hypopigmentation) of the skin and hair and abnormalities of the central nervous system that affect the eyes and certain parts of the brain (oculocerebral).
Hypopituitarism is the decreased (hypo) secretion of one or more of the eight hormones normally produced by the pituitary gland at the base of the brain.If there is decreased secretion of most pituitary hormones, the term panhypopituitarism (pan meaning "all") is used
Hypopituitarism - micropenis - cleft lip palate: A very rare syndrome characterized mainly by low pituitary hormone level, small penis and a cleft lip and palate.
A rare genetic disorder characterized by hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and polydactyly.
Hypopituitary dwarfism (medical condition): Short stature caused by low pituitary hormone levels which reduced growth hormone levels. Low pituitary hormone levels may be caused by genetic factors or acquired through brain infections, trauma or certain diseases
Hypoplasia hepatic ductular: A rare liver disorder where there are fewer than normal bile ducts in the liver - sometimes all the bile ducts are absent. Alagille syndrome is characterized by this liver abnormalitiy as well as a distinctive face, abnormal vertebrae and retarded physical, mental and sexual development.
Hypoplasia of the tibia with polydactyly: A very rare syndrome characterized mainly by an extra little finger and toe as well as an underdeveloped shin bone.