In-depth insights into various childhood syndromes and disorders.
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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 […]
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 […]
Laron syndrome is a rare genetic syndrome that occurs when the body is incapable of utilizing growth hormones. As a result, short stature is one of its main symptoms. The syndrome is not necessarily identified at birth, as affected infants are often born at an average height. Height growth starts to slow usually in childhood […]
Larsen syndrome is a rare genetic condition that affects the development of the bones. It may also be referred to as LRS syndrome. Symptoms may vary between individuals and even between those in the same family. The main symptom of the syndrome is dislocations of the hips, knees or elbows. It is currently believed to […]
Lateral Meningocele syndrome is a rare genetic condition that affects multiple parts of the body including the bones, muscles, nervous system, and other systems in the body. The syndrome is identified by the presence of lateral meningoceles which are when the membranes that surround the spinal cord protrude through gaps in the bones of the […]
Lenz-Majewski Hyperostotic Dwarfism is an extremely rare genetic condition. The main identifying symptoms of the syndrome include dwarfism, a unique facial appearance, cutis laxa (sagging skin), and progressive bone sclerosis. The syndrome is also characterized by intellectual disability, which is often quite severe. This syndrome is also known as:Hyperostotic dwarfism Lenz-Majewski Syndrome The PTDSS1 gene […]