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Jacobsen Distal 11q Deletion Syndrome

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Definition: A clinically recognized 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. Most patients have a THROMBOCYTOPENIA and platelet dysfunction known also as Paris-Trousseau type thrombocytopenia.      Other names Thrombocytopenia, Paris-Trousseau; Thrombocytopenia, Jacobsen; Syndrome, Paris-Trousseau; Syndrome, Jacobsen; Syndrome, 11q Deletion; Paris Trousseau Thrombocytopenia; Paris Trousseau Syndrome; Disorder, 11q23 Deletion; Disorder, 11q Deletion; Deletion Disorder, 11q23; Deletion Disorder, 11q; Partial 11q Monosomy Syndrome; Paris-Trousseau Thrombocytopenia; Paris-Trousseau Syndrome; Jacobsen Thrombocytopenia; Chromosome 11q Deletion Syndrome; 11q23 Deletion Disorder; 11q Terminal Deletion Disorder; 11q Deletion Syndrome; Jacobsen Syndrome
 
SubstanceCAS Registry & nameCategoriesSource
Thrombocytopenia Paris-Trousseau type  0   *Jacobsen Distal 11q Deletion Syndrome.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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