1 / 1
|
DeCS
|
|
|
Descriptor English:
|
|
Jacobsen Distal 11q Deletion Syndrome
|
Descriptor Spanish:
|
|
síndrome de Jacobsen de deleción distal 11q
|
Descriptor Portuguese:
|
|
Síndrome da Deleção Distal 11q de Jacobsen
|
Synonyms English:
|
|
11q Deletion Syndrome
11q Terminal Deletion Disorder
11q- Deletion Syndrome
11q23 Deletion Disorder
Chromosome 11q Deletion Syndrome
Jacobsen Thrombocytopenia
Paris-Trousseau Syndrome
Paris-Trousseau Thrombocytopenia
Partial 11q Monosomy Syndrome
Deletion Disorder, 11q
Deletion Disorder, 11q23
Disorder, 11q Deletion
Disorder, 11q23 Deletion
Paris Trousseau Syndrome
Paris Trousseau Thrombocytopenia
Syndrome, Jacobsen
Syndrome, Paris-Trousseau
Thrombocytopenia, Jacobsen
Thrombocytopenia, Paris-Trousseau
11q Deletion Disorder
Jacobsen Syndrome
|
Tree Number:
|
|
C15.378.140.855.440
C16.131.260.440
C16.320.180.440
|
Definition English:
|
|
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. |
History Note English:
|
|
2008
|
Allowable Qualifiers English:
|
|
|
Record Number:
|
|
52622
|
Unique Identifier:
|
|
D054868
|
Occurrence in VHL:
|
|
|
Similar:
|
|
DeCS CID-10 LILACS
|
|