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.
Also Known As:
11q Deletion Syndrome; 11q Terminal Deletion Disorder; 11q23 Deletion Disorder; Jacobsen Thrombocytopenia; Paris-Trousseau Syndrome; Paris-Trousseau Thrombocytopenia; Deletion Disorder, 11q; Deletion Disorder, 11q23; Disorder, 11q Deletion; Disorder, 11q23 Deletion; Paris Trousseau Syndrome; Paris Trousseau Thrombocytopenia; Syndrome, 11q Deletion; Syndrome, Jacobsen; Syndrome, Paris-Trousseau; Thrombocytopenia, Jacobsen; Thrombocytopenia, Paris-Trousseau; 11q Deletion Disorder; Jacobsen Syndrome