In-depth insights into various childhood syndromes and disorders.
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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 […]
Cleft Lip/Palate-Ectodermal Dysplasia syndrome is a rare genetic condition that presents with 3 specific congenital defects or symptoms. These symptoms affect the skin, hands, feet, and lips/mouth of affected individuals. The syndrome was first documented in 1770 in South America. Syndrome Synonyms:CLPED1 Ectodermal Dysplasia, Cleft Lip And Palate, Mental Retardation, and Syndactyly Ectodermal Dysplasia; Margarita […]
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 […]
Cockayne syndrome is a rare genetic condition that is usually diagnosed within the first two years of life. This rare disease was first identified in 1936 and named after the doctor who identified it. There are 3 types of the syndrome: Type A is the classic form of the disease, Type B is the most […]
Coffin-Lowry syndrome is a rare disease that exhibits more severe symptoms in males than females due to the way in which it is inherited. Females with the syndrome may display none to very few or very mild symptoms. Severe mental and intellectual disability are characteristic of the syndrome. Other defining features include issues related to […]
Coffin-Siris syndrome, also known as CSS or 5th digit syndrome, is characterized by coarse facial features and the 5th finger or toe’s underdevelopment. Symptoms may vary between individuals presenting with the syndrome. Health conditions associated with this syndrome may include abnormalities affecting the eyes, brain, heart, and kidneys. Syndrome Synonyms:CSS; Fifth Digit syndrome; Mental Retardation, […]