MCID: CRN113
MIFTS: 13

Craniosynostosis, Syndromic malady

Genetic diseases (common) category
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Summaries for Craniosynostosis, Syndromic

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MalaCards based summary: Craniosynostosis, Syndromic is related to craniosynostosis and shprintzen-goldberg syndrome.

Aliases & Classifications for Craniosynostosis, Syndromic

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Craniosynostosis, Syndromic, Aliases & Descriptions:

Name: Craniosynostosis, Syndromic 20


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Related Diseases for Craniosynostosis, Syndromic

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Graphical network of diseases related to Craniosynostosis, Syndromic:



Diseases related to craniosynostosis, syndromic

Symptoms for Craniosynostosis, Syndromic

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Drugs & Therapeutics for Craniosynostosis, Syndromic

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Drug clinical trials:

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Search NIH Clinical Center for Craniosynostosis, Syndromic

Genetic Tests for Craniosynostosis, Syndromic

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Genetic tests related to Craniosynostosis, Syndromic:

id Genetic test Affiliating Genes
1 Craniosynostosis, Syndromic20

Anatomical Context for Craniosynostosis, Syndromic

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Animal Models for Craniosynostosis, Syndromic or affiliated genes

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Publications for Craniosynostosis, Syndromic

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Articles related to Craniosynostosis, Syndromic:

(show all 27)
idTitleAuthorsYear
1
Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum. (23918290)
2013
2
Adenotonsillectomy for the management of obstructive sleep apnea in children with congenital craniosynostosis syndromes. (22777462)
2012
3
Response to Anesthetic management of a rare case of Shprintzen-Goldberg craniosynostosis syndrome. (21199127)
2010
4
Common primary fibroblastic growth factor receptor-related craniosynostosis syndromes: A pictorial review. (21042516)
2010
5
Anesthetic management of a rare case of Shprintzen-Goldberg craniosynostosis syndrome. (20670243)
2010
6
Tracheal cartilaginous sleeve in patients with craniosynostosis syndromes: a meta-analysis. (20638521)
2010
7
Hypodontia in Beare-Stevenson syndrome: an example of dental anomalies in FGFR-related craniosynostosis syndromes. (19860525)
2010
8
Bilateral lambdoid and sagittal synostosis (BLSS): a unique craniosynostosis syndrome or predictable craniofacial phenotype? (19396832)
2009
9
Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome. (19086028)
2009
10
Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies. (19731360)
2009
11
A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes. (17506099)
2007
12
Potential role of PC-1 expression and pyrophosphate elaboration in the molecular etiology of the FGFR-associated craniosynostosis syndromes. (17552941)
2007
13
Do Craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome? (16432427)
2006
14
Intracellular retention, degradation, and signaling of glycosylation- deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F. (16844695)
2006
15
Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity. (14613973)
2004
16
From gene to disease; craniosynostosis syndromes due to FGFR2-mutation]. (11820058)
2002
17
Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome. (11484208)
2001
18
Newly recognised craniosynostosis syndrome that does not map to known disease loci. (11074486)
2000
19
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation. (10406670)
1999
20
Analysis of patients with craniosynostosis syndromes for a pro246Arg mutation of FGFR4. (9682222)
1998
21
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. (9042914)
1997
22
Mutation detection in FGFR2 craniosynostosis syndromes. (9048930)
1997
23
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. (8841188)
1996
24
Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p. (8188211)
1994
25
FGFR-Related Craniosynostosis Syndromes (20301628)
1993
26
Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome? (2769726)
1989
27
Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome. (2845086)
1988

Variations for Craniosynostosis, Syndromic

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Expression for genes affiliated with Craniosynostosis, Syndromic

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Search GEO for disease gene expression data for Craniosynostosis, Syndromic.

Pathways for genes affiliated with Craniosynostosis, Syndromic

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Compounds for genes affiliated with Craniosynostosis, Syndromic

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GO Terms for genes affiliated with Craniosynostosis, Syndromic

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Products for genes affiliated with Craniosynostosis, Syndromic

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Sources for Craniosynostosis, Syndromic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet