Directory
Kenny-Caffey syndrome type 2
Kenny-Caffey syndrome type 2 (KCS2) is a rare inherited disorder characterized by...
Kearns-Sayre syndrome
Kearns-Sayre syndrome (KSS) is a rare inherited disorder that belongs to the group of mitochondrial...
Kindler syndrome
Kindler syndrome is a rare hereditary disorder characterized by abnormal skin structure and rapid aging. The syndrome is a...
Klinefelter syndrome
Klinefelter syndrome (KS) is a genetic disorder that occurs in males caused by the presence of one or more...
Kleine-Levin syndrome
Kleine-Levin syndrome (KLS) is a rare neurological disorder characterized by periods of hypersomnia with prolonged...
Klippel-Trenaunay syndrome
Klippel-Trenaunay syndrome (KTS) is a rare vascular disorder characterized by abnormal development of the venous system that pro...
Klippel-Feil syndrome
Klippel-Feil syndrome is a rare genetic disorder characterized by abnormalities of the cervical vertebrae that can result in...
Kluver-Bucy syndrome
Klüver-Bucy syndrome is a neurological disorder characterized by a number of specific...
Knobloch syndrome
Knobloch syndrome is a rare genetic disorder characterized by a combination of visual impairments such as cataracts and retin...
Kozlowski-Warren-Fisher syndrome
Kozlowski-Warren-Fisher syndrome is a rare genetic disorder characterized by multiple abnormalities that...
Coolen de Vries syndrome
Koolen de Vries syndrome (KdV) is an inherited disorder that belongs to a group of disorders that affect multiple systems in the body.
Kuskokwim syndrome
Kuskokwim syndrome, also known as postmortem morphosis syndrome, is a rare but extremely serious condition that...
Kuster's syndrome
Kuster syndrome, also known as gastrin overproduction syndrome, is a rare endocrine disorder characterized by...
ICF syndrome
MCF syndrome (microsomal organic dysfunction syndrome) is a rare but serious genetic disorder that causes...
Jacobsen syndrome
Jacobsen syndrome, also known as 11p syndrome or 11p-short arm deletion syndrome, is a rare genetic disorder that causes...
Keratitis-ichthyosis-deafness syndrome
Keratitis-ichthyosis-deafness syndrome (KID) is a rare genetic disorder characterized by a combination of eye, skin, and hearing abnormalities....
Irregular sleep-wake syndrome
Irregular sleep-wake syndrome (ISWS) refers to disorders characterized by severe disturbances in sleep regulation. ...
Irritable Bowel Syndrome (IBS)
Irritable bowel syndrome (IBS) is a functional disorder characterized by a group of symptoms including abdominal...
Judge Mish Wright Syndrome
Judge Misha Wright syndrome is a rare genetic disorder classified as a disorder of connective tissue formation. Post...
Infant Respiratory Distress Syndrome
Infant respiratory distress syndrome (IRDS) is an acute respiratory illness that affects newborns,...
Juvenile polyposis syndrome
Juvenile polyposis syndrome is a genetic disorder characterized by the formation of polyps in the gastrointestinal tract.
Junctional epidermolysis bullosa
Junctional epidermolysis bullosa (JEB) is a genetic disorder characterized by increased fragility of the skin and the formation of ...
Infantile-onset spinocerebellar ataxia (IOSCA)
Infantile-onset spinocerebellar ataxia (IOSCA) is a genetic neurodegenerative disorder that is classified as ...
Kozlovsky's spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia of Kozlowski (SMDC) is a rare genetic disorder characterized by abnormalities in the...
Increase in head circumference
Enlarged head circumference (macrocephaly) is a condition characterized by an abnormally large head size compared to the...
Follicular keratosis
Follicular keratosis, or keratosis pilaris, is a chronic dermatological disease characterized by impaired ...
Follicular Keratosis Spinulosa Decalvans
Keratosis Follicularis Spinulosa Decalvans is a rare skin disorder characterized by abnormal keratinization of hair follicles...
Juvenile angiofibroma
Juvenile angiofibroma (JAF) is a benign tumor that often occurs in the head and neck area, especially in ...
Juvenile Paget's disease
Juvenile Paget's disease (JPD) is a systemic bone disorder characterized by abnormal growth and structure of bone tissue.
Juvenile myoclonic epilepsy
Juvenile myoclonic epilepsy (JME) is one of the most common forms of epilepsy found in adolescence.
