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.
Year introduced: 2008
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Subheadings:
Tree Number(s): C15.378.140.855.440, C15.378.243.937.440, C16.131.260.440, C16.320.180.440
MeSH Unique ID: D054868
Entry Terms:
- 11q Terminal Deletion Disorder
- 11q Deletion Disorder
- Deletion Disorder, 11q
- 11q Deletion Syndrome
- Jacobsen Syndrome
- Chromosome 11q Deletion Syndrome
- Partial 11q Monosomy Syndrome
- 11q- Deletion Syndrome
- 11q- Deletion Syndromes
- Deletion Syndrome, 11q-
- Paris-Trousseau Thrombocytopenia
- Paris Trousseau Thrombocytopenia
- Thrombocytopenia, Paris-Trousseau
- Paris-Trousseau Syndrome
- Paris Trousseau Syndrome
- Jacobsen Thrombocytopenia
- Thrombocytopenia, Jacobsen
- 11q23 Deletion Disorder
- Deletion Disorder, 11q23
- Thrombocytopenia, Paris-Trousseau Type
- Paris-Trousseau Type Thrombocytopenia
- Paris-Trousseau Type Thrombocytopenias
- Thrombocytopenia, Paris Trousseau Type
- Type Thrombocytopenia, Paris-Trousseau
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