In-depth insights into various childhood syndromes and disorders.
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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 […]
Cranioectodermal dysplasia, also known as Sensenbrenner syndrome, is a rare genetic ciliopathy that can affect the skull, skeleton, hair, teeth, nails, skin, kidneys, liver, eyes, and other organs. The combination and severity of features vary between individuals. Doctors first described it in 1975, and fewer than 100 affected individuals have been documented in the medical literature, […]
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. […]
Craniofrontonasal syndrome is a rare genetic condition with an incidence of 1:100,000-1:120,000. The main symptom of this rare disease is the premature fusing together of the bones of the skull. This cause the unique facial features associated with the syndrome. Syndrome Synonyms:CFND Craniofrontonasal Dysostosis; Craniofrontonasal Dysplasia; CFND The syndrome is an X-linked recessive genetic disorder due […]
Craniometaphyseal Dysplasia is a rare genetic condition that leads to the overgrowth of the bones in the head, arms, and legs. When this overgrowth causes the bones to push against each other, or together, many of the symptoms of this syndrome are triggered. Syndrome Synonyms:CMD; Craniometaphyseal Dysplasia, Jackson Type; CMDJ; Mutations to the ANKH, GJA1 […]
Craniosynostosis itself is a condition, present at birth, whereby the bones of a baby’s skull fused together prematurely before the brain has fully developed. This in turn leads to a skull that is abnormally shaped as the brain grows. It is closely linked to Saethre-chotzen syndrome and Pfeiffer syndrome. There is no definitive gene yet […]
Cri-du-Chat syndrome is a rare genetic condition usually diagnosed at birth. The characteristic high-pitched cat-like cry is a major symptom of the syndrome and often enough to trigger the diagnostic process in a newborn. Also known as 5p- (5p minus) syndrome, this rare disease is a chromosomal condition characterized by intellectual disability, developmental delay, and […]
Crigler-Najjar syndrome is a rare genetic syndrome that leads to the build-up of high levels of unconjugated bilirubin. This form of bilirubin is a toxic substance and causes the most serious symptoms of this syndrome. There are two types of the syndrome: Type 1 is the severe form of the diseases, Type 2 is less […]