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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > Jacobsen Distal 11q Deletion Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > Jacobsen Distal 11q Deletion Syndrome
Hemic and Lymphatic Diseases > Hematologic Diseases > Blood Platelet Disorders > Thrombocytopenia > Jacobsen Distal 11q Deletion Syndrome
Hemic and Lymphatic Diseases > Hematologic Diseases > Cytopenia > Thrombocytopenia > Jacobsen Distal 11q Deletion Syndrome

Preferred term

Jacobsen Distal 11q Deletion Syndrome  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • 11q Deletion Disorder
  • 11q Deletion Syndrome
  • 11q- Deletion Syndrome
  • 11q- Deletion Syndromes
  • 11q Terminal Deletion Disorder
  • Chromosome 11q Deletion Syndrome
  • Deletion Disorder, 11q
  • Deletion Syndrome, 11q-
  • Jacobsen Syndrome
  • Partial 11q Monosomy Syndrome

Scope note

  • A clinically recognized congenital malformation condition caused by a distal 11q deletion. The features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, and hammertoes. Platelet dysfunction is a feature in Paris-Trousseau type thrombocytopenia.

History note

  • 2008

In other languages

  • Jacobsenin distaalinen 11q-deleetio -oireyhtymä

    Finnish

  • distaalinen 11q-deleetio -oireyhtymä
  • distaalinen 11q-deleetio -syndrooma
  • Jacobsen
  • Jacobsenin distaalinen 11q-deleetio -syndrooma
  • Jacobsenin oireyhtymä
  • Jacobsenin syndrooma
  • Jacobsens syndrom

    Swedish

  • 11q-deletionssyndrom
  • Jacobsens trombocytopeni
  • Paris-Trousseaus trombocytopeni

URI

http://www.yso.fi/onto/mesh/D054868

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