Jacobsen Distal 11q Deletion Syndrome

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; Paris-Trousseau Thrombocytopenia; Deletion Disorder, 11q; Deletion Disorder, 11q23; Disorder, 11q Deletion; Disorder, 11q23 Deletion; Paris Trousseau Syndrome; Paris Trousseau Thrombocytopenia; Syndrome, 11q Deletion; Syndrome, Jacobsen; Syndrome, Paris-Trousseau; Thrombocytopenia, Jacobsen; Thrombocytopenia, Paris-Trousseau; 11q Deletion Disorder; Jacobsen Syndrome
Networked: 22 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

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)


1. Grossfeld, Paul: 2 articles (11/2010 - 01/2009)
2. Brighton, Timothy A: 1 article (10/2015)
3. Mackay, Joel P: 1 article (10/2015)
4. Morel-Kopp, Marie-Christine: 1 article (10/2015)
5. Chen, Qiang: 1 article (10/2015)
6. Beutler, Lucinda: 1 article (10/2015)
7. Stevenson, William S: 1 article (10/2015)
8. Rabbolini, David J: 1 article (10/2015)
9. Gabrielli, Sara: 1 article (10/2015)
10. Ward, Christopher M: 1 article (10/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Jacobsen Distal 11q Deletion Syndrome:
1. Transcription Factors (Transcription Factor)IBA
2. Immunoglobulins (Immunoglobulin)IBA
3. Folic Acid (Vitamin M)FDA LinkGeneric
4. X fragile site folic acid typeIBA
5. Janus Kinase 3IBA
6. NeurograninIBA
7. A-Form DNA (A-DNA)IBA
8. Growth Hormone (Somatotropin)IBA
9. Serotonin (5 Hydroxytryptamine)IBA
10. Retinaldehyde (Retinal)IBA

Therapies and Procedures

1. Blalock-Taussig Procedure
2. Enteral Nutrition (Feeding, Tube)