In-depth insights into various childhood syndromes and disorders.
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Joubert syndrome is a rare disease that affects multiple parts of the body. The symptoms and features of the syndrome vary widely between individuals, and may even differ between affected individuals in the same family. It is a genetic syndrome that affects brain development primarily. But it also affects multiple parts of the brain. The […]
Kabuki syndrome is a rare genetic disorder and occurs in just 1 in 32,000 births. The condition affects males and females equally. It is characterized by specific facial features, including arched eyebrows and wide-set eyes. Health conditions associated with Kabuki syndrome may include short stature, immunological abnormalities, and elongated eyes, similar to those painted on […]
Kaufman Oculocerebrofacial syndrome is a rare genetic condition that presents with severe intellectual disability and unique facial features. As a multi-system syndrome, it affects multiple parts of the body including the heart, stomach, and nervous system. This syndrome is also known as:Blepharophimosis-ptosis-intellectual Disability Syndrome; BPIDS Oculo-cerebro-facial syndrome Changes to the UBE3B gene are responsible for […]
KBG syndrome is a very rare genetic disorder. It is named from the initials of the first families diagnosed with the syndrome. As a congenital malformation syndrome, distinctive facial features, facial dysmorphism, skeletal abnormalities, and intellectual disability are common symptoms of this rare disease. Very often individuals with the syndrome are also diagnosed with autism […]
Keratitis-Ichthyosis-Deafness Syndrome is a rare genetic condition that affects the eyes, skin, and ears at the same time. Most people know it by its shorthand, KID syndrome, and the name is almost a checklist of what to expect: corneal inflammation, thick scaly patches of skin, and hearing loss that’s usually present from birth. It has been reported in only […]
Keutel syndrome is a rare genetic syndrome. It is characterized by the calcification (when calcium salts accumulate in body tissue) of cartilage in the ears, nose, throat, voice box, and ribs of those affected. Changes in the MGP gene are responsible for causing the syndrome. It is inherited in an autosomal recessive pattern. Autosomal recessive […]
Kleefstra syndrome is a genetic condition that exhibits a wide range of symptoms that may affect multiple areas and systems of the body. The more common symptoms include intellectual disability, low muscle tone, seizures, and characteristic facial features. This rare disease was officially identified as Kleefstra syndrome in April 2010, making it a recently identified […]
Klinefelter syndrome is a rare genetic syndrome that occurs when a male infant is born with an extra X chromosome, instead of being born with XY chromosomes. Another name for Klinefelter syndrome is XXY syndrome. There are three types of the syndrome: where the male has an extra X chromosome in each cell, the mosaic […]
Koolen-de Vries syndrome is a rare genetic condition believed to occur in 1 in every 55,000 people. It is a recently discovered condition and was first identified in 2006. Characteristic features of the syndrome include mild-moderate intellectual disability with developmental delay. Low muscle tone in childhood is also a defining symptom of the syndrome. Individuals […]