Skip navigation

Disease Jacobsen Distal 11q Deletion Syndrome

Name Jacobsen Distal 11q Deletion Syndrome
Synonyms 11q23 Deletion Disorder | 11q Deletion Disorder | 11q Deletion Syndrome | 11q- Deletion Syndrome | 11q Terminal Deletion Disorder | Chromosome 11q Deletion Syndrome | Deletion Disorder, 11q | Deletion Disorder, 11q23 | Disorder, 11q23 Deletion | Disorder, 11q Deletion | Jacobsen Syndrome | Jacobsen Thrombocytopenia | JBS | Paris Trousseau Syndrome | Paris-Trousseau Syndrome | Paris Trousseau Thrombocytopenia | Paris-Trousseau Thrombocytopenia | Partial 11q Monosomy Syndrome | Syndrome, 11q Deletion | Syndrome, Jacobsen | Syndrome, Paris-Trousseau | Thrombocytopenia, Jacobsen | Thrombocytopenia, Paris-Trousseau
Definition 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.
Categories Blood disease | Congenital abnormality | Genetic disease (inborn)
MeSH® ID D054868
OMIM® ID 147791

Top ↑ Ancestors

1. DiseasesHemic and Lymphatic Diseases Has associated chemicals Has associated genes Has associated exposure references Hematologic Diseases Has associated chemicals Has associated genes Has associated exposure references Blood Platelet Disorders Has associated chemicals Has associated genes Has associated exposure references Thrombocytopenia Has associated chemicals Has associated genes Has associated exposure references Jacobsen Distal 11q Deletion Syndrome
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Jacobsen Distal 11q Deletion Syndrome
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Jacobsen Distal 11q Deletion Syndrome

Top ↑ Descendants

Jacobsen Distal 11q Deletion Syndrome
  Thrombocytopenia Paris-Trousseau type