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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

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Drugs and Important Biological Agents (IBA) related to treatments:

Transcription Factors (Transcription Factor) : 2 results : IBA
Immunoglobulins (Immunoglobulin) : 2 results : IBA
Folic Acid (Vitamin M) : 2 results : FDA 50 Generic
X fragile site folic acid type : 2 results : IBA
Janus Kinase 3 : 1 result : IBA
Neurogranin : 1 result : IBA
A-Form DNA (A-DNA) : 1 result : IBA
Growth Hormone (Somatotropin) : 1 result : IBA
Serotonin (5 Hydroxytryptamine) : 1 result : IBA
Retinaldehyde (Retinal) : 1 result : IBA

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Diseases Related to Jacobsen Distal 11q Deletion Syndrome

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Key Therapies for Jacobsen Distal 11q Deletion Syndrome

Efficacy Chart >>