The Klinefelter syndrome is characterized by supernumerary X chromosomes in male karyotype and belongs to the numerical chromosome aberrations and. It only affects boys.
Cleidocranial dysplasia or cleidocranial dysostosis is a hereditary disease with missing or underdeveloped clavicles, wide-open fontanelles, and cranial sutures as well as tooth changes.
Kindler syndrome is a rare geno-photodermatosis and is inherited as an autosomal recessive trait. It is characterized by the formation of blisters on the buttocks and photosensitivity starting from infancy.
Kimura's disease is characterized by solitary or multiple subcutaneous nodules, especially in the neck area.
Kikuchi Fujimoto's disease is a benign, self-limiting disease whose hallmark is a sudden swelling of the lymph nodes, accompanied by a persistent or recurrent fever and night sweats.
Primary ciliary dyskinesia (PCD) is a hereditary disease characterized by congenital cortical malocclusion.
Cardiofaciocutaneous syndrome is an innate combination of malformations with a mental retardation.
The syndrome is characterized by the coincidence of arteriovenous fistulas, arteriovenous malformation, and multiple capillary malformations.
Juvenile myelomonocytic leukemia can be described as a particularly malignant special form of leukemia in infants and young children with a malignant transformation of hematopoietic stem cells, the monocyte precursors.
Juvenile abscence epilepsy (JAE) is an age-related form of epilepsy.
Jackson-Weiss syndrome describes the combination of craniosynostosis, midface hypoplasia, and foot anomalies.
Invasive aspergillosis is an often fatal lung infection caused by fungal infestation.
The intersection syndrome is a rare, special form of tendonitis, located at the junction of the first and second tendon compartment.
Idiopathic thrombocytopenic purpura is a non-inherited autoimmune disease in which antibodies to the body's own platelets are formed.
Idiopathic pulmonary arterial hypertension (IPAH) is a rare form of pulmonary arterial hypertension characterized by increased vascular resistance and thus increased blood pressure in the pulmonary circulation.
Idiopathic pulmonary fibrosis is a serious, terminally fatal disease characterized by a steady decline in lung function.
Idiopathic achalasia is a neurodegenerative disorder that is caused by nerve cells of the myenteric plexus.
The rare syndrome of hypotrichosis with juvenile macular dystrophy is characterized by short, sparse hair from birth and progressive macular dystrophy, as well as blindness.
Hypophosphatasia (HPP) is a rare hereditary disease in which defective bone mineralization leads to impaired tooth and bone development.
Hypertelorism hypospadias-syndrome is a disease with multiple congenital midline malformations, including hypertelorism, laryngo-tracheo-oesophageal defects, and hypospadias.