In-depth insights into various childhood syndromes and disorders.
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Chromosome 1q21.1 Deletion syndrome is a rare genetic syndrome that occurs due to microdeletions on a specific chromosome. It affects the development of affected individuals, especially their motor skills development. Some individuals diagnosed with microdeletion show no symptoms of the syndrome at all, the reasons for this are still being researched. The syndrome occurs when […]
Chromosome 2q37 Deletion syndrome is a rare genetic syndrome that presents with a wide variety of syndromes and a number of unique, identifying facial features. The main features of the syndrome affect the bones in the fingers and toes of affected individuals, scoliosis (curvature of the spine), and short stature. It has been identified in […]
Chromosome 3pter-p25 Deletion syndrome is a rare genetic syndrome that can cause severe to profound intellectual disability. However, in some instances, normal intelligence with just mild abnormalities has also been associated with the syndrome. Syndrome Synonyms:3p- Syndrome The syndrome is caused when a small piece of chromosome 3, at a specific location on chromosome, 3pter-p25 […]
Chromosome 8q21.11 Deletion syndrome is a rare genetic syndrome that occurs due to a heterozygous overlapping microdeletion on chromosome 8. Loss of DNA fragment in chromosome 8, specifically in the q21.11 region. The overlapping microdeletions on the ZFHX4 or PEX2 genes within chromosome 8 are responsible for causing the syndrome. The majority of cases identified […]
Chromosome 9p Deletion syndrome is a rare genetic syndrome caused by deleted and missing copies of DNA on chromosome 9. The symptoms and severity of the syndrome vary according to the size of the deletion, its location, and the specific gene or genes involved. The main symptoms of the syndrome include intellectual disability and several […]
Chung-Jansen syndrome, also known as PHIP-related disorder, is a rare genetic condition that can affect development, learning, behaviour, growth, and physical health. It is caused by a disease-causing change in the PHIP gene, which plays a role in cell growth and brain development. Common features may include developmental delay, learning difficulties, intellectual disability, low muscle tone, behavioral […]
Cleft lip/palate-ectodermal dysplasia syndrome (CLPED1) is a rare inherited genetic condition that affects the development of the face, skin, hair, nails, and teeth. The syndrome is characterized by a combination of cleft lip or palate, ectodermal dysplasia, and webbing of the fingers or toes, known as syndactyly. Because symptoms can overlap with other rare genetic […]
Cleidocranial Dysplasia is a rare genetic condition that mainly affects the development of the bones and teeth. It is believed to occur in 1 in 1 million people, but the numbers of undiagnosed may be higher due to the fact that the syndrome may cause only very mild symptoms in some individuals. Syndrome Synonyms:CCD Cleidocranial […]
Clouston syndrome, also called hidrotic ectodermal dysplasia type 2, is a rare inherited condition that affects the hair, nails, and skin. It is caused by pathogenic variants in the GJB6 gene and is typically apparent from birth, though features often become more pronounced during infancy or childhood. What sets it apart from many other ectodermal dysplasias is what it doesn’t affect: teeth and sweat glands are usually unaffected. […]