Rare diseases

Hypochondroplasia (HCH) is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia and a head that appears large in comparison with the underdeveloped portions of the body. It is classified as short-limbed dwarfism.

Human disease

congenital disorder of digestive system

acrocephalosyndactylia that has material basis in a genetic mutation in the TWIST1 gene which results in premature fusion located in skull

connective tissue benign, locally invasive neoplasm that occurs most often in the abdomen, arms and legs

very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism

acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin

motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs

Human disease

Pseudohypoaldosteronism (PHA) is a condition that mimics hypoaldosteronism (presenting hyperkalemia). Two major types of primary pseudohypoaldosteronism are recognized and these have major differences in etiology and presentation.

autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene

disorder characterized by an abnormal heart rhythm (arrhythmia)

rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic paraplegia, and mental disabilities

Hyperekplexia (; "exaggerated surprise") is a neurological disorder characterized by a pronounced startle response to tactile or acoustic stimuli and an ensuing period of hypertonia. The hypertonia may be predominantly truncal, attenuated during sleep, or less prominent after one year of age.

A galactocele (also called lacteal cyst or milk cyst) is a retention cyst containing milk or a milky substance that is usually located in the mammary glands. They can occur in women during or shortly after lactation.

severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP

human disease

disease

Glycogen storage disease

lysosomal storage disease

thumb|Haploinsufficiency model of dominant genetic disorders. A+ is a normal allele. A− is a mutant allele with little or no function. In haplosufficiency (most genes), a single normal allele provides enough function, so A+A− individuals are healthy. In haploinsufficiency, a single normal allele does not provide enough function, so A+A− individuals have a genetic disorder.

congenital human disease

Human disease

Human disease

syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones

Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that severely reduce or stop the activity of the alpha-L-fucosidase enzyme. The result is a buildup of complex sugars in parts of the body, which leads to death. Fucosidosis is one of nine identified glycoprotein storage diseases. The gene encoding the alpha-fucosidase, FUCA 1, was found to be located to the short arm of chromosome 1p36 - p34, by Carrit and co-workers, in 1982.

autosomal recessive disease characterized by neuromyotonia and chondrodysplasia that has material basis in hypomorphic mutations in the HSPG2 gene on chromosome 1p36

group of autosomal recessive genetic disorders that affect Finns much more frequently

Human disease

Polymelia is a birth defect in which an affected individual has more than the usual number of limbs. It is a type of dysmelia. In humans and most land-dwelling vertebrates, this means having five or more limbs. The extra limb is most commonly shrunken or deformed. The term is from Greek πολυ- "many", μέλεα "limbs".

rare disease

Human disease

rare nonhereditary sporadic disorder

dermatological manifestation of many internal diseases, most often, glucagonoma.

amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine

Systemic inflammatory disorder, and a subtype of juvenile idiopathic arthritis, associated with fever, rash, and arthritis.

human disease

Human disease

acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue

non-malignant thickening of the feet's deep connective tissue

hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver

rare disease

Pyogenic arthritis-pyoderma gangrenosum-acne syndrome is a rare pleiotropic autoinflammatory disorder of childhood, primarily affecting the joints and skin

drug side effect

Monilethrix (also referred to as beaded hair) is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded. It comes from the Latin word for necklace (monile) and the Greek word for hair (thrix). Hair becomes brittle, and breaks off at the thinner parts between the beads. It appears as a thinning or baldness of hair and was first described in 1897 by Walter Smith

group of diseases that affect myelopoiesis, causing a congenital form of neutropenia

type of Langerhans cell histiocytosis typically present in children

Melorheostosis is a medical developmental disorder and mesenchymal dysplasia in which the bony cortex widens and becomes hyperdense in a sclerotomal distribution. The condition ends in childhood and is characterized by thickening of the bones. Pain is a frequent symptom and the bone can have the appearance of dripping candle wax.

human disease

hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity

Human disease

skin disorder

rare progressive congenital disorder with a highly variable phenotype

Carcinosarcomas are malignant tumors that consist of a mixture of carcinoma (or epithelial cancer) and sarcoma (or mesenchymal/connective tissue cancer). Carcinosarcomas are rare tumors, and can arise in diverse organs, such as the skin, salivary glands, lungs, the esophagus, pancreas, colon, uterus and ovaries.

human disease

human disease

multiple carboxylase deficiency that involves a deficiency in biotinidase

Porokeratosis is a specific disorder of keratinization that is characterized histologically by the presence of a cornoid lamella, a thin column of closely stacked, parakeratotic cells extending through the stratum corneum with a thin or absent granular layer.

Schizencephaly () is a rare birth defect of the brain, characterized by abnormal clefts lined with grey matter that form the ependyma of the cerebral ventricles to the pia mater. These clefts can occur bilaterally or unilaterally. Common clinical features of this malformation include epilepsy, motor deficits, and psychomotor retardation.