Childhood Syndromes and Disorders

Articles about Syndromes & Disorders

• Syndromes & Disorders

  

  KBG syndrome (KBGS)

  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 spectrum disorder, hyperactivity and/or anxiety. Syndrome Synonyms: Dento-maxillo-facial syndrome Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies

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• Syndromes & Disorders

  

  Keutel Syndrome

  It 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. There are less than 30 cases of the syndrome reported worldwide, to date, making it extremely rare.

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• Syndromes & Disorders

  

  Kleefstra syndrome

  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 syndrome. Syndrome Synonyms: 9q Subtelomeric Deletion Syndrome 9q- Syndrome Chromosome 9q34.3 Deletion Syndrome Kleefstra syndrome Kleefstrasyndrome

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• Syndromes & Disorders

  

  Klinefelter syndrome

  This rare disease is a genetic syndrome which 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 form of the syndrome which is an extra X chromosome in only some of the cells, or the presence of more than one extra X chromosome which is particularly rare and a very severe form of the condition.

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• Syndromes & Disorders

  

  Koolen-de Vries syndrome (KDVS)

  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 with the syndrome are often described as having a sociable, happy personality. Syndrome Synonyms: Chromosome 17q21.31 Deletion Syndrome; Microdeletion 17q21.31 Syndrome

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• Syndromes & Disorders

  

  Laron syndrome

  This rare disease is a genetic syndrome that occurs when the body is incapable of utilizing growth hormones. As a result a short stature is one of its main symptoms. The syndrome is not necessarily identified at birth, as affected infants are often born an average height. Height growth starts to slow usually in childhood and without treatment will continue into adulthood. Treatment for the limited height growth involves injections of a growth factor similar to insulin. Those diagnosed with the syndrome may possibly have a reduced risk of developing cancer and diabetes type 2. Syndrome Synonyms: Growth Hormone Insensitivity Syndrome; Growth Hormone Receptor Deficiency LTD Pituitary Dwarfism

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• Syndromes & Disorders

  

  Larsen syndrome (LRS)

  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 occur in one in every 100,000 newborns, but it is possible that many cases are misdiagnosed or missed.

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• Syndromes & Disorders

  

  Lateral Meningocele syndrome (LMNS)

  This rare disease is a 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 spine. These are more likely to be found in the lower part of the spine where they are often bigger also. There are only a few cases of the syndrome reported worldwide to date. Syndrome Synonyms: Lateralmenigocelesyndrome Lateralmeningocelesyndrome Lehman (1977) – osteosclerosis; abnormalities of nervous system/meninges Lehman Syndrome; Lehman syndrome; LMS Lms

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• Syndromes & Disorders

  

  Lenz-Majewski Hyperostotic Dwarfism (LMHD)

  This is an incredibly rare genetic condition with just 9 cases reported worldwide to date. 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

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