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Jacobsen Distal 11q Deletion Syndrome Summary

Description: A clinically recognized 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. Most patients have a THROMBOCYTOPENIA and platelet dysfunction known also as Paris-Trousseau type thrombocytopenia.

Also Known As: 11q Deletion Syndrome; 11q Terminal Deletion Disorder; 11q23 Deletion Disorder; Jacobsen Thrombocytopenia; Paris-Trousseau Syndrome Show All >>

Networked: 22 relevant articles (0 outcomes, 0 trials/studies) for this Disease

Key Drugs and Agents for Jacobsen Distal 11q Deletion Syndrome

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Transcription Factors (Transcription Factor) : 2 results : IBA
  2. Immunoglobulins (Immunoglobulin) : 2 results : IBA
  3. Folic Acid (Vitamin M) : 2 results : FDA 50 Generic
  4. X fragile site folic acid type : 2 results : IBA
  5. Janus Kinase 3 : 1 result : IBA
  6. Neurogranin : 1 result : IBA
  7. A-Form DNA (A-DNA) : 1 result : IBA
  8. Growth Hormone (Somatotropin) : 1 result : IBA
  9. Serotonin (5 Hydroxytryptamine) : 1 result : IBA
  10. Retinaldehyde (Retinal) : 1 result : IBA
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Diseases Related to Jacobsen Distal 11q Deletion Syndrome

  1. Mental Retardation (Idiocy)
  2. Jacobsen Distal 11q Deletion Syndrome
  3. Thrombocytopenia (Thrombopenia)
  4. Pervasive Child Development Disorders
  5. Genetic Predisposition to Disease (Genetic Predisposition)
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Key Therapies for Jacobsen Distal 11q Deletion Syndrome

Efficacy Chart >>
  1. Blalock-Taussig Procedure : 1 result
  2. Enteral Nutrition (Feeding, Tube) : 1 result

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