What is 1p36 Deletion Syndrome? 1p36 deletion syndrome is a disorder caused by a deletion of a small piece of chromosome 1. Common features of 1p36 deletion syndrome include moderate to severe intellectual disability, delayed growth, limited speech ability, and distinct facial features. Individuals with the condition may also have vision or hearing problems and abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia. Seizures are also commonly observed. Due to differences in deletion sizes between individuals, the symptoms associated with 1p36 deletion syndrome can vary greatly. How common is 1p36 Deletion Syndrome? The incidence of 1p36 deletion syndrome in the population is estimated to be 1 in 5,000 live births. How is 1p36 Deletion Syndrome treated? There is no cure for 1p36 deletion syndrome. Treatment for the condition is directed at managing an individual's specific symptoms. Common treatments include surgeries to correct birth defects and medications to manage symptoms. Physical and occupational therapy may also be helpful. Individuals must work with various healthcare specialists for interventions based on their needs. What is the prognosis for an individual with 1p36 Deletion Syndrome? The prognosis depends on the severity of the symptoms an individual has. Some individuals may not survive childhood, while others may live well into adulthood. Usually, individuals with the condition require both medical and living support their entire lives. References Guterman, S., et al., 2019, Prenat Diagn, 39(10):871-882, PMID: 31172545 . Jordan, V. K. et al., 2015, Appl Clin Genet., 27;8:189-200, PMID: 26345236 Rocha, C.F., et al., 2016, Genet Mol Res., 15(1), PMID: 26910004 Resources Genetic and Rare Diseases Information Center (GARD). GARD is a program of the National Center for Advancing Translational Sciences (NCATS). Its goal is to provide access to easy-to-understand, current, and accurate information about rare genetic disorders. Address: Genetic and Rare Diseases Information Center P.O. Box 8126 Gaithersburg, MD 20898-8126 Phone: 888-205-2311 Unique – Rare Chromosome Disorder Support Group Unique's mission is to inform, support, and alleviate the isolation of anyone affected by a rare chromosome disorder, copy number variant, or single gene disorder associated with learning disability/developmental delay and to raise public awareness. Address: The Stables, Station Road West Oxted Surrey RH8 9EE UK Phone: +44 (0)1883 723356 1p36 Support and Awareness 1p36 Deletion Support & Awareness (1p36 DSA) was founded in 2009 by parents of children diagnosed with 1p36 Deletion Syndrome to bring support to families and greater awareness to society regarding this condition.