Rare diseases

Adermatoglyphia is an extremely rare genetic disorder that prevents the development of fingerprints. Five extended families worldwide are known to be affected by this condition.

human disease

multisystem disease

rare disease

Haemolacria or hemolacria is a physical condition that causes a person to produce tears that are partially composed of blood.

Hypophosphatasia (; also called deficiency of alkaline phosphatase, phosphoethanolaminuria, or '''Rathbun's syndrome; sometimes abbreviated HPP''') is a rare, and sometimes fatal, inherited metabolic bone disease. Clinical symptoms are heterogeneous, ranging from the rapidly fatal, perinatal variant, with profound skeletal hypomineralization, respiratory compromise or vitamin B6 dependent seizures to a milder, progressive osteomalacia later in life. Tissue non-specific alkaline phosphatase (TNSALP) deficiency in osteoblasts and chondrocytes impairs bone mineralization, leading to rickets or os

Arrhinia (alternatively spelled "arhinia") is the congenital partial or complete absence of the nose at birth. It is an extremely rare condition, with few reported cases in the history of modern medicine. It is generally classified as a craniofacial abnormality.

inborn error of fructose metabolism caused by a deficiency of the enzyme aldolase B

Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder

hereditary sensory and autonomic neuropathy type III (HSAN-III), is a disorder of the autonomic nervous system which affects the development and survival of sensory

human disease

autosomal recessive inborn error of metabolism that results in the body not producing enough active lysosomal acid lipase (LAL) enzyme

organic acidemia that involves an accumulation of methylmalonic acid in the blood

demyelinating disease characterized by the fact that the demyelinated tissues form concentric layers

term

appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis

congenital malformation in which the heart is abnormally located either partially or totally outside of the thorax

Neuromyotonia (NMT) is a form of peripheral nerve hyperexcitability that causes spontaneous muscular activity resulting from repetitive motor unit action potentials of peripheral origin. NMT along with Morvan's syndrome are the most severe types in the Peripheral Nerve Hyperexciteability spectrum. Example of two more common and less severe syndromes in the spectrum are cramp fasciculation syndrome and benign fasciculation syndrome. NMT can have both hereditary and acquired (non-inherited) forms. The prevalence of NMT is unknown.

human arterial disease

osteochondrosis that results in death and collapse located in navicular bone of foot

X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities

Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting

Tarlov cysts, also known as perineural cysts, are cerebrospinal fluid-filled sacs that form within the nerve root sheath, most commonly at the sacral level of the spine.

Turricephaly is a type of cephalic disorder where the head appears tall with a small length and width. It is due to premature closure of the coronal suture plus any other suture, like the lambdoid, or it may be used to describe the premature fusion of all sutures. It should be differentiated from Crouzon syndrome. Oxycephaly (or acrocephaly) is a form of turricephaly where the head is cone-shaped, and is the most severe of the craniosynostoses.

congenital heart defect in humans

Keratomalacia is an eye disorder that results from vitamin A deficiency. Vitamin A is required to maintain specialized epithelia (such as in the cornea and conjunctiva).

lysosomal storage disorder from the GM2 gangliosidosis family, characterised by central nervous system degeneration

rare neoformation of the cerebellum due to a mutation in the PTEN-Gen

no proof

thumb | right | alt=Xray showing short metacarpals as may be seen in pseudohypoparathyroidism type 1a and 1c | Short metatarsals as may be seen in pseudohypoparathyroidism type 1a and 1c Pseudohypoparathyroidism is a rare autosomal dominant genetic condition associated primarily with resistance to the parathyroid hormone. Those with the condition have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is inappropriately high (due to the low level of calcium in the blood). Its pathogenesis has been linked to dysfunctional G proteins (in particular, Gs alpha subunit)

Hemiballismus or hemiballism is a basal ganglia syndrome resulting from damage to the subthalamic nucleus in the basal ganglia. It is a rare hyperkinetic movement disorder, that is characterized by pronounced involuntary limb movements on one side of the body and can cause significant disability. Rarely it affects both sides of the body. Symptoms can decrease during sleep.

human disease

exostosis that has material basis in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth

rare disease

human disease

rare multisystem disease characterized by blockages of small to medium sized blood vessels

congenital disorder

congenital structural myopathy characterized by generally non-progressive muscle weakness of varying severity

osteochondrodysplasia that has material basis in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain

medical condition

congenital disorder of urinary system

rare type of Craniopagus

impaired renal function disease characterized by a complete or partial resistance of the kidneys to arginine vasopressin (AVP)

testing of newborn infants for medical conditions

osteochondrodysplasia that results in short arms and legs with excess folds of skin

organic acidemia disrupting or preventing normal metabolism of the branched-chain amino acid leucine

rare condition characterized by generalized obesity and fatty tumors in the adipose tissue.

Human disease

Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint issues. AGU is a autosomal recessive disease.

ciliopathy with impaired function of the cilia lining the respiratory tract and fallopian tube

autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features; the two forms are type 1 (classic) and type 2, a rare form that has material basis in mutations in a transcript variant of CACNA1C

Galactosialidosis, also known as neuraminidase deficiency with beta-galactosidase deficiency, is a genetic lysosomal storage disease. It is caused by a mutation in the CTSA gene which leads to a deficiency of enzymes β-galactosidase and neuraminidase. This deficiency inhibits the lysosomes of cells from functioning properly, resulting in the accumulation of toxic matter within the cell. Hallmark symptoms include abnormal spinal structure, vision problems, coarse facial features, hearing impairment, and intellectual disability. Because galactosialidosis involves the lysosomes of all cells, it c

type of brain tumor

medical condition

chronic blistering skin disease

autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has material basis in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene

genetic disease

human disease

Human disease

Oligodactyly () is the presence of fewer than five digits (fingers or toes) on a hand or foot.