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Diseases

Genetic and Rare Diseases Information Center (GARD)

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3p deletion syndrome


Other Names for this Disease

  • 3p- syndrome
  • Chromosome 3, monosomy 3p25
  • Del(3p) syndrome
  • Deletion 3p25
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Symptoms

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What are the signs and symptoms of 3p deletion syndrome?

3p deletion syndrome may cause a wide variety of abnormalities, with the extent sometimes depending on the overall size of the deleted part. Some people with 3p deletion syndrome are described as "normal," while others are severely affected. Characteristic features of the syndrome include low birth weight, small head size (microcephaly), trigonocephaly, poor muscle tone (hypotonia), intellectual disability, growth problems, drooping of the eyelid (ptosis), and small jaw (micrognathia). Other features that may be seen include extra fingers or toes (polydactyly), kidney (renal) anomalies, congenital heart defects, ear anomalies, and gastrointestinal tract anomalies.[1]

To read more about some of the signs and symptoms reported in people with 3p deletion syndrome, you can read Unique's disorder guide entitled '3p25 deletions.' The information in this guide is drawn partly from the
published medical literature, and partly from Unique's database of members with a 3p deletion.
Last updated: 7/8/2014

References
  1. Kaur A, Khetarpal S. 3p deletion syndrome. Indian Pediatr. August, 2013; 50(8):795-796. Accessed 7/8/2014.


Other Names for this Disease
  • 3p- syndrome
  • Chromosome 3, monosomy 3p25
  • Del(3p) syndrome
  • Deletion 3p25
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.