Structured Summary
Abstract
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.
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Classification
Broader headings
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MeSH Record
Synonyms
24 entry terms
- 11q Deletion Disorder
- 11q Deletion Syndrome
- 11q Terminal Deletion Disorder
- 11q- Deletion Syndrome
- Chromosome 11q Deletion Syndrome
- Jacobsen Syndrome
- Partial 11q Monosomy Syndrome
- 11q- Deletion Syndromes
- Deletion Disorder, 11q
- Deletion Syndrome, 11q-
- 11q23 Deletion Disorder
- Jacobsen Thrombocytopenia
- Paris-Trousseau Syndrome
- Paris-Trousseau Thrombocytopenia
- Thrombocytopenia, Paris-Trousseau Type
- Deletion Disorder, 11q23
- 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
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
History Note
2008
MeSH Record
Previous Indexing
- Chromosomes, Human, Pair 11 (1986-2007)
MeSH Hierarchy
Tree Numbers
AMA Style
References
- National Library of Medicine. Jacobsen Distal 11q Deletion Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D054868. http://id.nlm.nih.gov/mesh/2026/D054868
- Jacobsen Distal 11q Deletion Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Jacobsen_syndrome
- Jacobsen Distal 11q Deletion Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q1677755