Diseases

Hypoplastic left heart syndrome

Hypoplastic left heart syndrome (also known as HLHS), is a rare congenital heart defect in which the left side of the heart is severely underdeveloped

Hypoplastic thumb mullerian aplasia

Hypoplastic thumb - mullerian aplasia: A rare disorder characterized by an underdeveloped thumb, vertebral abnormalities and abnormal development or lack of a part of the female reproductive system (uterus, cervix and upper vagina). The external genitalia appear normal and the ovaries usually function normally.

Hypoplastic thumbs hydranencephaly

Hypoplastic thumbs - hydranencephaly: A very rare syndrome characterized mainly by underdeveloped thumb and abnormal brain development where the cerebral space is filled with cerebrospinal fluid instead of brain tissue.

Hypoproconvertinemia

Hypoproconvertinemia (medical condition): A rare inherited blood disorder caused by a deficiency of a blood protein called Factor VII and resulting in poor blood coagulation. The severity of the condition is variable

Hypoprothrombinemia

Hypoprothrombinemia is a blood disorder that results from a deficiency of prothrombin. Also known as Factor II, prothrombin is blood plasma protein essential for blood clotting. A lack of prothrombin results in blood clotting problems, meaning the body will have trouble stopping bleeding after an injury. In serious cases of hypoprothrombinemia, patients also suffer from internal hemorrhaging, particularly in the gastrointestinal system.

Hyporeninemic hypoaldosteronism

Hyporeninemic hypoaldosteronism: A rare condition where low levels of renin result in insufficient aldosterone being produced

Hypotelorism cleft palate hypospadias

Hypotelorism - cleft palate - hypospadias: A very rare syndrome characterized mainly by an abnormally placed urethral opening, cleft palate and close set eyes.

Hypothalamic dysfunction

Hypothalamic dysfunction is a problem with the region of the brain called the hypothalamus, which helps control the pituitary gland and regulate many body functions.

Hypothalamic hamartomas

Hypothalamic hamartoma (abbreviated as HH) is a congenital condition consisting of a mass of disorganized neuronal or glial tissue on or near the hypothalamus. HH is generally not detected on CT scans, and on MRI it is isointense to gray matter. The size of HHs varies from less than 1 cm to more than 3 cm.

Hypothyroidism due to iodide transport defect

Hypothyroidism due to iodide transport defect: Low thyroid hormone levels in infants due to abnormal iodide transport in the body caused by a genetic defect. The severity of the condition varies depending on the extent of the defect and the length of time taken to diagnose the condition. Symptoms tend to become worse, the longer the condition is undiagnosed

Hypotonic sclerotic muscular dystrophy

Hypotonic sclerotic muscular dystrophy: A very rare inherited disorder involving abnormalities of various body systems. It is a variation of Ullrich's disease. The contractures that develop progress rapidly.

Hypoxanthine guanine phosphoribosyltransferase deficiency

The genetic basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency has been identified by nucleotide sequence analysis of HPRT cDNAs cloned from a patient with gout. A single nucleotide change was identified in two independent clones: an A to G transition at nucleotide 602. Confirmation of a mutation at this site was provided by RNase mapping analysis

IBIDS syndrome

BIDS syndrome: A rare inherited skin disorder characterized by red, dry, scaly skin (I - ichthyosis), brittle hair (B), impaired physical and mental development (I), decreased fertility (D) and short stature (S). It is the same as PIBIDS syndrome but doesn't involve photosensitivity.

ICF syndrome

ICF syndrome: A very rare, recessively inherited syndrome characterized mainly by a weak immune system and facial anomalies.

Ichthyosis hystrix- Curth Macklin type

Ichthyosis hystrix, Curth Macklin type: A rare inherited skin disorder involving variable degrees of scaling, thickening and hardening of the skin which can occur anywhere on the body.

Ichthyosis linearis circumflexa

Ichthyosis linearis circumflexa is a distinctive skin condition of generalized hyperkeratosis and polycyclic and serpiginous erthematous plaques with a characteristic, migratory, double-edged scale at the margins, and is the typical cutaneous manifestation of Netherton's syndrome

Ichthyosis male hypogonadism

Ichthyosis and male hypogonadism: A very rare syndrome characterized mainly by scaly skin and insufficient hormone production by the male gonads

Ichthyosis microphthalmos

Ichthyosis refers to a relatively uncommon group of skin disorders characterized by the presence of excessive amounts of dry surface scales. It is regarded as a disorder of keratinization or cornification, and it is due to abnormal epidermal differentiation or metabolism. The ichthyosiform dermatoses may be classified according to clinical manifestations, genetic presentation, and histologic findings. Inherited and acquired forms of ichthyosis have been described, and ocular alterations may occur in specific subtypes. Five distinct types of inherited ichthyosis exist, as follows: ichthyosis vulgaris, lamellar ichthyosis, epidermolytic hyperkeratosis, congenital ichthyosiform erythroderma, and X-linked ichthyosis.

Ichthyosis prematurity syndrome

Ichthyosis prematurity syndrome: A very rare syndrome characterized mainly by premature birth with a thick layer of skin that peels to leave dry, scaly, thickened skin.

Ichthyosis tapered fingers midline groove up

Ichthyosis tapered fingers midline groove up is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Ichthyosis tapered fingers midline groove up, or a subtype of Ichthyosis tapered fingers midline groove up, affects less than 200,000 people in the US population.

Ichthyosis vulgaris

Sometimes called fish scale disease or fishskin disease, ichthyosis vulgaris is an inherited skin disorder that causes dead skin cells to accumulate in thick, dry scales on the skin's surface. These scales can be present at birth, but usually first appear in early childhood. Sometimes ichthyosis vulgaris disappears entirely for most of the adult years, only to return later. Though most cases are mild, some cases of ichthyosis vulgaris are severe. No cure has been found and treatments are directed at controlling the signs and symptoms.