In-depth insights into various childhood syndromes and disorders.
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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 […]
Dyastrophic Dysplasia is a rare genetic condition that affects the development of bone and cartilage. It leads to joint pain and abnormalities in affected individuals. The syndrome affects mainly those of Caucasian descent and occurs in 1 in 500,000 live births in the US. Syndrome Synonyms:DD Mutations in the SLC26A2 gene are responsible for the […]
Distal 18q Deletion syndrome is a rare genetic condition that affects multiple parts of the body including the face, nervous system, and the heart and kidneys. The syndrome occurs in 1 in 55,000 live births in the US. The syndrome is caused by the deletion of a piece of the long (q) arm of chromosome […]
Donnai-Barrow syndrome is a rare genetic condition that affects multiple parts and systems of the body including the brain, ears, face, eyes, and internal organs. It is believed to affect less than 50 individuals globally. Syndrome Synonyms:DBS/FOAR Syndrome Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, and Proteinuria; Faciooculoacousticorenal Syndrome FOAR Mutations to […]
Down syndrome is one of the most common genetic conditions, and approximately 1 in every 700 babies born in the US is born with this syndrome. Maternal age is believed to be a significant risk factor for developing oocytes with extra chromosome 21; although more Down syndrome babies are born to younger mothers, that is […]
Dubowitz syndrome is a very rare genetic condition, with less than 200 cases diagnosed worldwide to date. Currently, the research has not revealed one common genetic cause of the condition, and there are some researchers and medical professionals who continue to argue that it is not a condition simply a collection of symptoms. The main […]