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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:
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Transcription Factors (Transcription Factor)
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2 results
: IBA
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Immunoglobulins (Immunoglobulin)
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2 results
: IBA
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Folic Acid (Vitamin M)
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2 results
:
FDA 50
Generic
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X fragile site folic acid type
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2 results
: IBA
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Janus Kinase 3
:
1 result
: IBA
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Neurogranin
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1 result
: IBA
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A-Form DNA (A-DNA)
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1 result
: IBA
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Growth Hormone (Somatotropin)
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1 result
: IBA
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Serotonin (5 Hydroxytryptamine)
:
1 result
: IBA
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Retinaldehyde (Retinal)
:
1 result
: IBA
Show All >>
Diseases Related to Jacobsen Distal 11q Deletion Syndrome
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Mental Retardation (Idiocy)
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Jacobsen Distal 11q Deletion Syndrome
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Thrombocytopenia (Thrombopenia)
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Pervasive Child Development Disorders
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Genetic Predisposition to Disease (Genetic Predisposition)
Show All >>
Key Therapies for Jacobsen Distal 11q Deletion Syndrome
Efficacy Chart >>
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Blalock-Taussig Procedure
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1 result
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Enteral Nutrition (Feeding, Tube)
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1 result
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