Diseases

Geleophysic dwarfism

A rare genetic disorder characterized by a happy facial expression, short stature and limb abnormalities.

Gelineau’s syndrome

A neurological disorder sudden uncontrollable urge to sleep, sleep paralysis and other symptoms.

Gemignani syndrome

A very rare syndrome characterized by muscle weakness and wasting, ataxia and deafness.

GEMSS syndrome

A rare syndrome characterized mainly by stiff joints, short stature, glaucoma and a dislocated eye lens

Genee-Wiedemann syndrome

An extremely rare birth disorder characterized by mental retardation and a variety of physical defects.

Generalized arterial calcification of infancy-1 (GACI1)

Generalized arterial calcification of infancy-1 (GACI1) is a very rare condition which was first described in 1901. The features associated with ACI typically include heart failure, high blood pressure (hypertension), and failure to thrive. These features vary, with each infant being differently affected by the severity of their symptoms.

Generalized pustular psoriasis

Generalized pustular psoriasis (GPP) is a rare, chronic, and severe inflammatory skin disorder characterized by sudden eruption of sterile pustules, often accompanied by systemic inflammation. GPP flares can be life-threatening if untreated, owing to potential serious complications such as sepsis and cardiovascular failure. Diagnosis and clinical measurement of disease severity in GPP are often difficult. Lack of standardized criteria in the international guidelines and the heterogeneity of cutaneous and extracutaneous symptoms make the diagnosis of GPP difficult. Clinical criteria for description and diagnosis of pustular conditions, including GPP, are variable and there is no specific agreement on commonly sustained concepts. Differentiation of GPP from other similar conditions/diseases is important and requires careful assessments. The evidence that supports current topical or systemic therapies is largely based on case reports and small studies. Some biologic agents that target key cytokines involved in the activation of inflammatory pathways have been used as treatments for GPP. Recently, spesolimab, an IL-36R antagonist, has been approved in the USA and Japan for the treatment of GPP flares in adults, but there are no currently approved treatments for GPP in Europe. The IL-36 pathway has recently emerged as a central axis driving the pathogenic inflammatory mechanisms of GPP. Biologic agents that inhibit the IL-36 pathway have shown efficacy and safety in patients with GPP, addressing a generally considered unmet medical need.

Generalized resistance to thyroid hormone

Thyroid hormone resistance describes a rare syndrome where the thyroid hormone levels are elevated but the thyroid stimulating hormone (TSH) level is not suppressed, or not completely suppressed as would be expected

Generalized torsion dystonia

The dystonias are movement disorders in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures. The movements, which are involuntary and sometimes painful, may affect a single muscle; a group of muscles such as those in the arms, legs, or neck; or the entire body. Those with dystonia usually have normal intelligence and no associated psychiatric disorders.

Genetic reflex epilepsy

A genetic condition where certain lights (e.g. tv), sounds, music, movements and reading can trigger a seizure.

Geniospasm

Geniospasm is movement disorder of the mentalis muscle. It is a benign but socially excluding genetic disorder linked to chromosome 9q13-q21 where there are episodic involuntary up and down movements of the chin and lower lip. The movements consist of rapid fluttering or trembling at about 8Hz superimposed onto a once per three seconds movement of higher amplitude and occur symmetrically in the V shaped muscle. The tongue and buccal floor muscles may also be affected but to a much lesser degree.

Genito palato cardiac syndrome

A rare birth disorder where an enzyme deficiency (7-dehydrocholesterol reductase) prevents cholesterol being metabolized properly. The condition causes a variety of physical abnormalities. Type II is a more severe form of the condition.

Genoa syndrome

A rare disorder characterized mainly by premature fusion of skull bones and partial separation of the two brain halves.

Genu varum

Genu varum (also called bow-leggedness or bandiness), is a deformity marked by medial angulation of the leg in relation to the thigh, an outward bowing of the legs, giving the appearance of a bow. It is also known as bandy-leg, bowleg, bow-leg, and tibia vara. Usually there is an outward curvature of both femur and tibia. "Genu varum" is distinguished from Blount's disease because it involves both the femur and the tibia, while "Blount's disease" affects only the tibia with no femur involvement.

Geographic tongue

Geographic tongue, also known as benign migratory glossitis, erythema migrans, or continental tongue, is a condition affecting the tongue. The colloquial names are due to the condition resembling a map.

German syndrome

A rare disorder caused by fetal exposure to trimethadione (anticonvulsant drug) and resulting in various physical and developemental abnormalities.

Gerodermia osteodysplastica

Gerodermia osteodysplastica (GO), also called geroderma osteodysplasticum and Walt Disney dwarfism, is a rare autosomal recessive connective tissue disorder included in the spectrum of cutis laxa syndromes.

Gershinibaruch Leibo syndrome

A very rare syndrome characterized by a skin defect (localized absence of skin at birth) and nearsightedness and other eye anomalies

Gertsmann syndrome

Gerstmann's syndrome is a cognitive impairment that results from damage to a specific area of the brain -- the left parietal lobe in the region of the angular gyrus. It may occur after a stroke or in association with damage to the parietal lobe. It is characterized by four primary symptoms: a writing disability (agraphia or dysgraphia), a lack of understanding of the rules for calculation or arithmetic (acalculia or dyscalculia), an inability to distinguish right from left, and an inability to identify fingers (finger agnosia). The disorder should not be confused with Gerstmann-Sträussler-Scheinker disease, a type of transmissible spongiform encephalopathy.

Gestational pemphigoid

Gestational Pemphigoid or Pemphigoid Gestationis (PG) is a rare autoimmune blistering skin disease that occurs during pregnancy, typically in the second or third trimester, and/or immediately following pregnancy. It was originally called herpes gestationis because of the blistering appearance, although it is not associated with the herpes virus.

Gestational trophoblastic disease

Gestational trophoblastic tumor, a rare cancer in women, is a disease in which cancer (malignant) cells grow in the tissues that are formed following conception (the joining of sperm and egg). Gestational trophoblastic tumors start inside the uterus, the hollow, muscular, pear-shaped organ where a baby grows. This type of cancer occurs in women during the years when they are able to have children. There are two types of gestational trophoblastic tumors: hydatidiform mole and choriocarcinoma.

Ghosal hematodiaphyseal dysplasia syndrome

Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia. The exact prevalence is unknown. GHDD has been reported in unrelated families of Indian and Middle East origin, and is associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). GHDD is transmitted as an autosomal recessive trait.

Ghosal syndrome

A very rare syndrome characterized mainly by difficult to treat anemia and skeletal abnormalities.

Gianotti-Crosti syndrome

Gianotti-Crosti syndrome is a self-limited childhood exanthem that manifests in a characteristic acral distribution. It is rarely associated with systemic findings. The original cases, described in Italy by Gianotti in 1955, were associated with hepatitis B virus infection, although other viral infections currently account for most cases.