List of rare diseases

According to the World Health Organization (WHO), there are about 7.000 rare diseases that affect 7% of the world’s population. This list only includes some of them

It is estimated that there are around 6.000 rare diseases identified worldwide, affecting more than 400 million people

It is considered that a disease is rare when it affects fewer than 5 people per 10.000 inhabitants

80% of rare diseases have a genetic basis and tend to be chronic and degenerative

Thay can affect any age, but are often diagnosed in childhood. 30% of children with rare diseases do not survive past 5 years old

Congenital Multiple Arthrogryposis

The Congenital Multiple Arthrogryposis (known by the acronym CMA) is a term used to describe more than 300 conditions that present with multiple join contractures at birth in different parts of the body

Mitochondrial diseases

They are diseases caused by a defect in energy production within the cells of the body. Specifically, they originate from the failure of the mitochondria, responsible for generating said energy, to function properly

Huntington's disease

It is a neurodegenerative, hereditary, autosomal dominant disease. Its cause lies in the mutation of the gene that encodes the hungingin protein. This mutation produces an altered form of the protein that leads to the death of neurons in some areas of the brain

Cystic fibrosis

Cystic Fibrosis (CF) is a disorder characterized by the production of sweat with a high salt content and mucous secretions with abnormal viscosity

Familial Mediterranean Fever (FMF)

Familiar Mediterranean Fever is a genetic disease caused by mutations in the MEFV gene, located on the short arm of chromosome 16. Mutations in the gene lead to the abnormal formation of the pyrin/marenostrin protein, which prevents proper regulation of inflammation

Congenital hyperinsulinism

Congenital hyperinsulinism is the most severe form of hypoglycemia due to the high carbohydrate requirements necessary to maintain normoglycemia. The excessive secretion of insulin suppresses the production of other alternative energy sources

Hereditary Fructose intolerance

Hereditary Fructose Intolerance is a disease where the ALDOLASE B enzyme, which degrades fructose, does not function properly. It is an inherited disease with an autosomal recessive trait (both genes responsible for synthesizing the protein are defective)


Leukodystrophies destroy the central nervous system in children and adults. They affect myelin and the white matter that surrounds nerves, acting as an insulating sheath. To date, more than 20 diseases have been identified as leukodystrophies

Arnold Chiari Syndrome

Arnold Chiari Syndrome is a congenital malformation of the central nervous system located in the posterior fossa or base of the brain, which belongs to the group of malformations of the cervicomedullary junction (junction between the upper part of the cervical spine and the skull

The Cornelia de Lange Syndrome

This syndrome is a genetic disorder that affects many organs and does not always manifest itself severely. Microcephaly and intellectual disability are common, and it can also affect prenatal and postnatal growth and present limb malformations

Gilles de la Tourette Syndrome

It is a hereditary neurological disorder characterized by repetitive, stereotyped, and involuntary movements and the emission of vocal sounds called tics. Symptoms often appear in childhood. Therefore, teachers, in addition to family, are often the first to observe tics

Noonan Syndrome

It is a genetic disorder that results in various pathologies that hinder the patient's normal development (heart disease, developmental and motor delay, feeding difficulties, vision and/or hearing impairment, hematological and behavioral disorders, learning disabilities...)

Nail-Patella syndrome

It is a hereditary osteo-onychodysplasia. The symptoms are variable, with the most characteristic being nail dysplasia, displasia of the fingers and toes, and aplasia or hypoplasia of the patellar plates or patella. Hypoplasia of certain bones and tendons of the elbow and iliac horns can also occur

Fragile X-Síndrome

Fragile X-Síndrome is a genetic and hereditary disorder related to the X chromosome. In addition to other alterations, it can cause intellectual difficulties that range from simple learning problems to intellectual disability

Joubert Syndrome

Joubert Syndrome is characterized by a congenital malformation in the brainstem and agenesis or hypoplasia of the cerebellar vermis, which can cause respiratory problems, nystagmus, hypotonia, ataxia, and delayed motor development

Bladder Exstrophy

La extrophy of the bladder is a malformation of the blader and urethra in which the bladder has turned inside out. The urethra, which is the tube that carries urine out of the body, has not fully formed. This is called epispadias

Cerebral palsy

Cerebral Palsy is described as a group of movement developmental disorder causing limitation of activity attributed to a non-progressive injury to a developing brain, during fetal or early years

Metabolic diseases

Phenylketonuria (PKU), ketonuria, homocystinuria, glutaric acidemia, propionic acidemia, tyrosinemia type 1, methylmalonic acidemia, citrullinemia type 1, argininosuccinic aciduria, and any disease that requires a low-protein diet

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