In-depth insights into various childhood syndromes and disorders.
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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 […]
Crouzon Syndrome syndrome is a genetic condition that results in the premature fusion of the skull bones. This premature fusing causes most of the serious symptoms of the condition. Crouzon syndrome occurs in around 1 in every 16 million live births. It is the most common craniosynostosis syndrome. Syndrome Synonyms:Craniofacial Dysostosis, Type I; CFD1 Crouzon […]
Cutis Laxa, Autosomal Recessive is a rare genetic connective tissue disorder. It affects the connective tissue in the skin, heart, blood vessels, joints, intestines, and lungs. There are autosomal dominant and autosomal recessive forms of the syndrome. The forms of the syndrome inherited in a recessive pattern tend to present with more severe symptoms. Changes […]
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and seizures syndrome (DOORS) is a rare congenital genetic condition that presents with a variety of different symptoms affecting multiple parts of the body. There are just 50 cases diagnosed worldwide, to date. The main features of the syndrome include intellectual disability, hearing impairment, and digit anomalies. This syndrome is […]
Desanto-Shinawi syndrome is a rare neurodevelopmental disorder first identified in 2016 in six families. The syndrome presents with several distinct facial features and behavioral issues. Generally, the main symptoms are identified in infancy and childhood and include global developmental delay, low muscle tone, and feeding problems. Syndrome Synonyms: Developmental delay, Behavioral abnormalities, Facial dysmorphism, and […]