Jacobsen Distal 11q Deletion Syndrome


11q Deletion Disorder

11q Deletion Syndrome

11q Terminal Deletion Disorder

11q- Deletion Syndrome

11q23 Deletion Disorder

Chromosome 11q Deletion Syndrome

Deletion Disorder, 11q

Deletion Disorder, 11q23

Disorder, 11q Deletion

Disorder, 11q23 Deletion

Jacobsen Syndrome

Jacobsen Thrombocytopenia

Paris Trousseau Syndrome

Paris Trousseau Thrombocytopenia

Paris-Trousseau Syndrome

Paris-Trousseau Thrombocytopenia

Partial 11q Monosomy Syndrome

Syndrome, Jacobsen

Syndrome, Paris-Trousseau

Thrombocytopenia, Jacobsen

Thrombocytopenia, Paris-Trousseau

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.