Svensk definition
Ett kliniskt erkänt tillstånd med missbildningar orsakade av en distal 11q-deletion. Syndromet kännetecknas av hämmad tillväxt, psykomotoriska funktionsnedsättningar, trigonocefali, skelning, epikantus, telekantus, bred näsrygg, kort näsa med uppåtgående näsborrar, karpformad överläpp, retrognati, lågt sittande dysmorfiska öron, bilateral kamptodaktyli och hammartår. De flesta patienter har trombocytopeni och blodplättsdysfunktion, även kallad Paris-Trousseau typ trombocytopeni.
Engelsk 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.
Svenska synonymer
11q-deletionssyndrom — Paris-Trousseaus trombocytopeni — Jacobsens trombocytopeni
Engelska synonymer
11q Deletion Syndrome — Jacobsen Syndrome — 11q Terminal Deletion Disorder — Partial 11q Monosomy Syndrome — 11q- Deletion Syndrome — 11q- Deletion Syndromes — Deletion Syndrome, 11q- — 11q Deletion Disorder — Deletion Disorder, 11q — Chromosome 11q Deletion Syndrome — Paris-Trousseau Thrombocytopenia — Paris Trousseau Thrombocytopenia — Thrombocytopenia, Paris-Trousseau — Thrombocytopenia, Paris-Trousseau Type — Paris-Trousseau Type Thrombocytopenia — Paris-Trousseau Type Thrombocytopenias — Thrombocytopenia, Paris Trousseau Type — Type Thrombocytopenia, Paris-Trousseau — 11q23 Deletion Disorder — Deletion Disorder, 11q23 — Paris-Trousseau Syndrome — Paris Trousseau Syndrome — Jacobsen Thrombocytopenia — Thrombocytopenia, Jacobsen