A summary on this disease is available in Deutsch (2003) Español (2020) Français (2020) Italiano (2020) Nederlands (2020) Slovak (2006, pdf) The documents contained in this web site are presented for information purposes only. [orpha.net]

• Disability

  Psychomotor delay and intellectual disability usually become evident in the first year of life and recurrent respiratory and intestinal infections may be observed during infancy. [orpha.net]

Management and treatment No specific treatment exists, however, rehabilitation, initiated early-on, has proven to be beneficial as it seems to improve prognosis and social adaptation. [orpha.net]

Prognosis It is reported a 10% mortality, with 75 - 90% of the cases within the first year of life. [orpha.net]

Etiology The disorder is due to a partial or total deletion of the short arm of chromosome 5, with the critical region located between 5p15.2 and 5p15.3. The deletion size may range from 0.5 to 40 Mb. [orpha.net]

Summary Epidemiology Monosomy 5p prevalence at birth ranges from 1/15,000 to 1/45,000, with females being slightly more affected than males. [orpha.net]