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Jacobsen Distal 11q Deletion Syndrome Summary

5 relevant articles (0 outcomes, 0 trials/studies) found for this Disease

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 >>

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) : 1 result : IBA
  2. Growth Hormone (Somatotropin) : 1 result : IBA
  3. Serotonin (5 Hydroxytryptamine) : 1 result : IBA
  4. Retinaldehyde (Retinal) : 1 result : IBA
  5. Hormones : 1 result : IBA
  6. Carbon Monoxide : 1 result : IBA
  7. Adenine : 1 result : FDA 6

Diseases Related to Jacobsen Distal 11q Deletion Syndrome

  1. Chromosome Breakage
  2. Precocious Puberty
  3. Platelet Storage Pool Deficiency
  4. Hypothyroidism
  5. Hyperopia (Hypermetropia)
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Key Therapies for Jacobsen Distal 11q Deletion Syndrome

Efficacy Chart >>

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