HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Jacobsen Distal 11q Deletion Syndrome

A clinically recognized congenital 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. Platelet dysfunction is a feature in Paris-Trousseau type thrombocytopenia.
Also Known As:
11q Deletion Syndrome; 11q Terminal Deletion Disorder; 11q- Deletion Syndrome; 11q23 Deletion Disorder; Chromosome 11q Deletion Syndrome; Jacobsen Thrombocytopenia; Paris-Trousseau Syndrome; Paris-Trousseau Thrombocytopenia; Partial 11q Monosomy Syndrome; Thrombocytopenia, Paris-Trousseau Type; 11q- Deletion Syndromes; Deletion Disorder, 11q; Deletion Disorder, 11q23; Deletion Syndrome, 11q-; Paris Trousseau Syndrome; Paris Trousseau Thrombocytopenia; Paris-Trousseau Type Thrombocytopenia; Paris-Trousseau Type Thrombocytopenias; Thrombocytopenia, Jacobsen; Thrombocytopenia, Paris Trousseau Type; Thrombocytopenia, Paris-Trousseau; Type Thrombocytopenia, Paris-Trousseau; 11q Deletion Disorder; Jacobsen Syndrome
Networked: 24 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1. Jacobsen Distal 11q Deletion Syndrome
2. Intellectual Disability (Idiocy)
3. Autism Spectrum Disorder
4. Thrombocytopenia (Thrombopenia)
5. Genetic Predisposition to Disease (Genetic Predisposition)

Experts

1. Grossfeld, Paul: 3 articles (01/2019 - 03/2009)
2. Mattina, Teresa: 2 articles (01/2019 - 03/2009)
3. Choi, Su-Yeon: 2 articles (01/2017 - 01/2015)
4. Chung, Woosuk: 2 articles (01/2017 - 01/2015)
5. Cutforth, Tyler: 2 articles (01/2017 - 01/2015)
6. Han, Kihoon: 2 articles (01/2017 - 01/2015)
7. Kim, Eunjoon: 2 articles (01/2017 - 01/2015)
8. Kim, Myeong-Heui: 2 articles (01/2017 - 01/2015)
9. Lee, Dongsoo: 2 articles (01/2017 - 01/2015)
10. Shen, Kang: 2 articles (01/2017 - 01/2015)

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. Long Noncoding RNAIBA
5. Janus Kinase 3IBA
6. NeurograninIBA
7. Proto-Oncogene Protein c-ets-1IBA
8. A-Form DNA (A-DNA)IBA
9. VaccinesIBA
10. Growth Hormone (Somatotropin)IBA

Therapies and Procedures

1. Blalock-Taussig Procedure
2. Heart Transplantation (Grafting, Heart)
3. Enteral Nutrition (Feeding, Tube)