In-depth insights into various childhood syndromes and disorders.
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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, […]
Cohen syndrome is an inherited genetic condition and rare disease. There are less than 500 recorded cases of the syndrome to date, but as symptoms vary considerably between individuals, there may be many more unreported and undiagnosed cases. This underdiagnosis is due to the fact that the combination of some of the main symptoms- a […]
Cold-induced sweating syndrome is a rare genetic condition characterized by excessive sweating, affecting mainly the chest, face, arms, and trunk of the body, brought on by a cold or ambient temperature. Mutations in the CRLF1 and CLCF1 genes are responsible for the syndrome. It is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means […]
Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay is a rare genetic syndrome that affects mainly the limbs and faces of those affected. It also presents with hypotonia (low muscle tone) and developmental delay to various degrees. Syndrome Synonyms:Congenital contractures of the limbs and face, hypotonia, and developmental. Changes or mutations in […]
This genetic condition is also known as a deficiency of N-glycanase 1. This deficiency of NGLY1 is believed to trigger many of the symptoms associated with this syndrome. These symptoms include development delay, seizures, and uncontrolled limb movements. Also known formerly as, Congenital Disorder of Glycosylation Type Iv Mutations in the NGLY1 gene are responsible […]
Congenital Disorder of Glycosylation, Type Ia is an inherited condition that triggers a wide variety of different symptoms in different individuals with the condition. Even individuals within the same family with the disorder can present with very different symptoms and severity of symptoms. The disorder can present with some serious symptoms and 20% of infants […]
Cornelia De Lange syndrome is a genetic disorder with a widely varied phenotype. This means symptoms vary significantly between individuals both in terms of their presentation and their severity. Most patients share some facial characteristics as well as short stature and/or growth abnormality. The syndrome is also often referred to as Brachman De Lange, CDLS, […]