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.

Also Known As:

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

Hemic and Lymphatic Diseases: 7
- Hematologic Diseases: 3445
  - Cytopenia: 2659
    - Thrombocytopenia: 27291
      - Jacobsen Distal 11q Deletion Syndrome: 26
  - Blood Platelet Disorders: 129
    - Thrombocytopenia: 27291
      - Jacobsen Distal 11q Deletion Syndrome: 26
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Chromosome Disorders: 140
    - Jacobsen Distal 11q Deletion Syndrome: 26
- Inborn Genetic Diseases: 12342
  - Chromosome Disorders: 140
    - Jacobsen Distal 11q Deletion Syndrome: 26

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Drug/Important Bio-Agent (IBA)