1p36 deletion syndrome is a congenital genetic disorder caused by the loss of a segment of DNA from the outermost band of the short arm of chromosome 1, making it one of the most common deletion syndromes recognized in humans, affecting an estimated one in five thousand to one in ten thousand births. It produces a wide range of effects that can include moderate to severe intellectual disability, delayed growth, low muscle tone, seizures, limited speech, structural malformations, and impaired hearing or vision, alongside a set of facial features that are often recognizable to clinicians. Because the deleted region can vary in size and exact location from one person to another, the severity and combination of symptoms differ considerably between individuals. Its presentation overlaps with several other neurodevelopmental syndromes, including Rett syndrome, Angelman syndrome and Prader-Willi syndrome, which must be distinguished during diagnosis.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) Sources
1. 1p36 deletion syndrome (Wikipedia)
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1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features.
Lead: disease category
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features.
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