Presentation
Entire Body System
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Developmental Delay
This chromosomal change often leads to intellectual disability, developmental delay, and abnormal physical features. Individuals with 3p deletion syndrome typically have severe to profound intellectual disability. [ghr.nlm.nih.gov]
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Disability
This chromosomal change often leads to intellectual disability, developmental delay, and abnormal physical features. Individuals with 3p deletion syndrome typically have severe to profound intellectual disability. [ghr.nlm.nih.gov]
Musculoskeletal
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Small Head
Many affected individuals have slow growth, an abnormally small head (microcephaly), a small jaw (micrognathia), droopy eyelids (ptosis), malformed ears or nose, and widely spaced eyes (hypertelorism). [ghr.nlm.nih.gov]
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Short Arm
Individuals with 3p deletion syndrome associated with an unbalanced translocation are missing genetic material from the short arm of chromosome 3, which results in the signs and symptoms of this disorder. 3p partial monosomy syndrome 3p- syndrome chromosome [ghr.nlm.nih.gov]
Face, Head & Neck
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Hypertelorism
Many affected individuals have slow growth, an abnormally small head (microcephaly), a small jaw (micrognathia), droopy eyelids (ptosis), malformed ears or nose, and widely spaced eyes (hypertelorism). [ghr.nlm.nih.gov]
Psychiatrical
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Compulsive Disorder
Some individuals with 3p deletion syndrome have obsessive-compulsive disorder (OCD) or features of autism spectrum disorders, which are conditions characterized by impaired communication and social interaction. [ghr.nlm.nih.gov]