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Jacobsen Distal 11q Deletion Syndrome

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.

Year introduced: 2008

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Tree Number(s): C15.378.140.855.440, C16.131.260.440, C16.320.180.440

MeSH Unique ID: D054868

Entry Terms:

  • 11q Deletion Disorder
  • Deletion Disorder, 11q
  • 11q- Deletion Syndrome
  • 11q- Deletion Syndromes
  • Deletion Syndrome, 11q-
  • Jacobsen Syndrome
  • Chromosome 11q Deletion Syndrome
  • Partial 11q Monosomy Syndrome
  • 11q Terminal Deletion Disorder
  • 11q Deletion Syndrome
  • Paris-Trousseau Thrombocytopenia
  • Paris Trousseau Thrombocytopenia
  • Thrombocytopenia, Paris-Trousseau
  • Thrombocytopenia, Paris-Trousseau Type
  • Paris-Trousseau Type Thrombocytopenia
  • Paris-Trousseau Type Thrombocytopenias
  • Thrombocytopenia, Paris Trousseau Type
  • Type Thrombocytopenia, Paris-Trousseau
  • 11q23 Deletion Disorder
  • Deletion Disorder, 11q23
  • Paris-Trousseau Syndrome
  • Paris Trousseau Syndrome
  • Jacobsen Thrombocytopenia
  • Thrombocytopenia, Jacobsen

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