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Jacobsen Distal 11q Deletion Syndrome MeSH Descriptor Data 2025


MeSH Heading
Jacobsen Distal 11q Deletion Syndrome
Tree Number(s)
C15.378.140.855.440
C15.378.243.937.440
C16.131.260.440
C16.320.180.440
Unique ID
D054868
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D054868
Scope Note
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.
Entry Term(s)
11q Deletion Disorder
11q Deletion Syndrome
11q Terminal Deletion Disorder
11q- Deletion Syndrome
11q23 Deletion Disorder
Chromosome 11q Deletion Syndrome
Jacobsen Syndrome
Jacobsen Thrombocytopenia
Paris-Trousseau Syndrome
Paris-Trousseau Thrombocytopenia
Partial 11q Monosomy Syndrome
Thrombocytopenia, Paris-Trousseau Type
Previous Indexing
Chromosomes, Human, Pair 11 (1986-2007)
Public MeSH Note
2008
History Note
2008
Date Established
2008/01/01
Date of Entry
2007/07/09
Revision Date
2023/02/26
Jacobsen Distal 11q Deletion Syndrome Preferred
Paris-Trousseau Thrombocytopenia Narrower
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