Jacobsen Distal 11q Deletion Syndrome

**Definition:** 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.

**Tree numbers:** - C15.378.140.855.440 - C15.378.243.937.440 - C16.131.260.440 - C16.320.180.440

**Synonyms:** - 11q Terminal Deletion Disorder - 11q Deletion Disorder - 11q Deletion Syndrome - Jacobsen Syndrome - Chromosome 11q Deletion Syndrome - Partial 11q Monosomy Syndrome - 11q- Deletion Syndrome