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.

Descriptor ID	D054868
MeSH Number(s)	C15.378.140.855.440 C16.131.260.440 C16.320.180.440
Concept/Terms	Jacobsen Distal 11q Deletion Syndrome Jacobsen Distal 11q Deletion Syndrome Partial 11q Monosomy Syndrome Jacobsen Syndrome Syndrome, Jacobsen 11q Deletion Syndrome Syndrome, 11q Deletion 11q Terminal Deletion Disorder Chromosome 11q Deletion Syndrome Paris-Trousseau Syndrome Paris Trousseau Syndrome Syndrome, Paris-Trousseau 11q Deletion Disorder Deletion Disorder, 11q Disorder, 11q Deletion Paris-Trousseau Thrombocytopenia Paris-Trousseau Thrombocytopenia Paris Trousseau Thrombocytopenia Thrombocytopenia, Paris-Trousseau Jacobsen Thrombocytopenia Thrombocytopenia, Jacobsen 11q23 Deletion Disorder Deletion Disorder, 11q23 Disorder, 11q23 Deletion

Below are MeSH descriptors whose meaning is more general than "Jacobsen Distal 11q Deletion Syndrome".

Below are MeSH descriptors whose meaning is related to "Jacobsen Distal 11q Deletion Syndrome".

Below are MeSH descriptors whose meaning is more specific than "Jacobsen Distal 11q Deletion Syndrome".