NLM Logo

Jacobsen Distal 11q Deletion Syndrome MeSH Descriptor Data 2024


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
page delivered in 0.157s