Jacobsen Distal 11q Deletion Syndrome

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5 relevant articles (0 outcomes, 0 trials/studies) found for this Disease

Description: 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.

Also Known As:

11q Deletion Syndrome; 11q Terminal Deletion Disorder; 11q23 Deletion Disorder; Jacobsen Thrombocytopenia; Paris-Trousseau Syndrome; Paris-Trousseau Thrombocytopenia; Deletion Disorder, 11q; Deletion Disorder, 11q23; Disorder, 11q Deletion; Disorder, 11q23 Deletion; Paris Trousseau Syndrome; Paris Trousseau Thrombocytopenia; Syndrome, 11q Deletion; Syndrome, Jacobsen; Syndrome, Paris-Trousseau; Thrombocytopenia, Jacobsen; Thrombocytopenia, Paris-Trousseau; 11q Deletion Disorder; Jacobsen Syndrome

Disease Context: Research Results

Hemic and Lymphatic Diseases

Hematologic Diseases: 1421

Blood Platelet Disorders: 77

Thrombocytopenia: 12248

Jacobsen Distal 11q Deletion Syndrome: 5

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 422

Congenital Abnormalities: 9330

Chromosome Disorders: 63

Jacobsen Distal 11q Deletion Syndrome: 5

Inborn Genetic Diseases: 549

Chromosome Disorders: 63

Jacobsen Distal 11q Deletion Syndrome: 5

Related Diseases

1.	Chromosome Breakage
2.	Precocious Puberty
3.	Platelet Storage Pool Deficiency
4.	Hypothyroidism
5.	Hyperopia (Hypermetropia)

Experts

1.	Auer, R: 1 article (05/2000)
2.	Cotter, F: 1 article (05/2000)
3.	Jones, C: 1 article (05/2000)
4.	Grossfeld, P: 1 article (05/2000)
5.	Tunnacliffe, A: 1 article (05/2000)
6.	James, M: 1 article (05/2000)
7.	Chien, K: 1 article (05/2000)
8.	Favier, R: 1 article (05/2000)
9.	Müllenbach, R: 1 article (05/2000)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Jacobsen Distal 11q Deletion Syndrome:

1.	Transcription Factors (Transcription Factor)IBA 07/01/2004 - "An especially rare condition called Paris-Trousseau syndrome (PTS) seems to occur by virtue of hemizygous loss of the FLI1 transcription factor gene" Order ALL the reference details at left...
2.	Growth Hormone (Somatotropin)IBA 09/01/1996 - "Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases." Order ALL the reference details at left...
3.	Serotonin (5 Hydroxytryptamine)IBA 11/01/2007 - "Platelets from six patients with Jacobsen syndrome were markedly diminished in serotonin adenine nucleotide rich dense bodies, indicating the presence of platelet storage pool deficiency" Order ALL the reference details at left...
4.	Retinaldehyde (Retinal)IBA 01/01/2007 - "The phenotype of our proband is partially common with Jacobsen syndrome and duplication 18q but she has also some atypical anomalies such as precocious puberty, a retinal albinism and hypermetropia" Order ALL the reference details at left...
5.	HormonesIBA 09/01/1996 - "Although growth retardation is a consistent finding in 11q deletion syndrome, the presence of hypothalamic-pituitary hormone deficiency has not been reported previously." Order ALL the reference details at left...
6.	Carbon MonoxideIBA 05/01/2000 - "Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage." Order ALL the reference details at left...
7.	Adenine FDA Link 11/01/2007 - "Platelets from six patients with Jacobsen syndrome were markedly diminished in serotonin adenine nucleotide rich dense bodies, indicating the presence of platelet storage pool deficiency" Order ALL the reference details at left...

Best Treatments:
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