In-depth insights into various childhood syndromes and disorders.
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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, […]
Costello syndrome is a rare genetic disorder thought to affect just 200-300 people worldwide, to date. Individuals with the syndrome are at higher risk for non-cancerous and cancerous tumors including papilloma’s and a form of childhood cancer known as rhabdomyosarcoma. A characteristic coarse facies, as well as facial warts are constant features with this rare […]
Craniodiaphyseal Dysplasia, is a very rare bone disorder where calcium builds up in the skull affecting the facial features of those affected. Abnormally shaped bones, a hardening of the bones, and excessive overgrowth of the bones characterize the syndrome. To learn more about Lionitis Disease, also known as Craniodiaphyseal Dysplasia, explore our detailed overview on […]
Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation syndrome is a genetic condition characterized by abnormal development of the brain, face and torso. The syndrome is characterized by severe intellectual disability, limited to zero speech development, and behavioral issues. Syndrome Synonyms:Cerebro-facio-thoracic dysplasia; Cerebrofaciothoracic Dysplasia Mutations in the TMCO1 and RAB5IF genes are responsible for the syndrome. […]