loading...| Preferred Name |
obsolete_Jacobsen syndrome |
| Synonyms |
Telomeric deletion 11q Partial deletion 11q Del(11)(qter) Monosomy 11qter Del(11)(q23.3) Jacobsen Distal 11q Deletion Syndrome Distal deletion 11q Distal monosomy 11q |
| Definitions |
Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. 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. |
| ID |
http://www.orpha.net/ORDO/Orphanet_2308 |
| Obsolete |
true |
| comment |
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. |
| database_cross_reference |
OMIM:147791 NCIt:C75457 MeSH:D054868 UMLS:C0795841 ICD10:Q93.5 |
| definition |
Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. |
| definition_citation |
orphanet |
| deprecated |
true |
| has_exact_synonym |
Telomeric deletion 11q Partial deletion 11q Del(11)(qter) Monosomy 11qter Del(11)(q23.3) Jacobsen Distal 11q Deletion Syndrome Distal deletion 11q Distal monosomy 11q |
| label |
obsolete_Jacobsen syndrome |
| obsoleted_in_version |
3.41.0 |
| prefLabel |
obsolete_Jacobsen syndrome |
| reason_for_obsolescence |
Replaced with Mondo term. |
| term editor |
Sirarat Sarntivijai |
| term replaced by | |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_2308 | Orphanet Rare Disease Ontology / Orphanet罕见病本体 | SAME_URI |