MCID: FGF001
MIFTS: 12

Fgfr-Related Craniosynostosis Syndromes

Aliases & Classifications for Fgfr-Related Craniosynostosis Syndromes

MalaCards integrated aliases for Fgfr-Related Craniosynostosis Syndromes:

Name: Fgfr-Related Craniosynostosis Syndromes 24
Acrocephalosyndactyly 24 6

Characteristics:

GeneReviews:

24
Penetrance Fgfr-related coronal synostosis is usually autosomal dominant with reduced penetrance...

Summaries for Fgfr-Related Craniosynostosis Syndromes

MalaCards based summary : Fgfr-Related Craniosynostosis Syndromes, also known as acrocephalosyndactyly, is related to saethre-chotzen syndrome and apert syndrome. An important gene associated with Fgfr-Related Craniosynostosis Syndromes is RHBDF1 (Rhomboid 5 Homolog 1).

GeneReviews: NBK1455

Related Diseases for Fgfr-Related Craniosynostosis Syndromes

Diseases related to Fgfr-Related Craniosynostosis Syndromes via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)
# Related Disease Score Top Affiliating Genes
1 saethre-chotzen syndrome 12.1
2 apert syndrome 12.1
3 pfeiffer syndrome 11.8
4 carpenter syndrome 1 11.3
5 robinow-sorauf syndrome 11.2
6 summitt syndrome 11.2
7 craniosynostosis 10.3
8 cleft palate, isolated 9.9
9 jackson-weiss syndrome 9.9
10 crouzon syndrome 9.9
11 kleeblattschaedel 9.9
12 anus, imperforate 9.9
13 ascites, chylous 9.9
14 renal tubular dysgenesis 9.9
15 hydrocephalus 9.9
16 dextrocardia 9.9
17 encephalocele 9.9

Graphical network of the top 20 diseases related to Fgfr-Related Craniosynostosis Syndromes:



Diseases related to Fgfr-Related Craniosynostosis Syndromes

Symptoms & Phenotypes for Fgfr-Related Craniosynostosis Syndromes

Drugs & Therapeutics for Fgfr-Related Craniosynostosis Syndromes

Search Clinical Trials , NIH Clinical Center for Fgfr-Related Craniosynostosis Syndromes

Genetic Tests for Fgfr-Related Craniosynostosis Syndromes

Anatomical Context for Fgfr-Related Craniosynostosis Syndromes

Publications for Fgfr-Related Craniosynostosis Syndromes

Articles related to Fgfr-Related Craniosynostosis Syndromes:

(show top 50) (show all 57)
# Title Authors Year
1
Hypodontia in Beare-Stevenson syndrome: an example of dental anomalies in FGFR-related craniosynostosis syndromes. ( 19860525 )
2010
2
Spontaneous ocular prolapse as an unusual late presentation of acrocephalosyndactyly. ( 17882001 )
2007
3
Acrocephalosyndactyly, Apert type, in a newborn: Cerebral sonography. ( 23396677 )
2007
4
Pathology teach and tell: acrocephalosyndactyly type I (Apert syndrome). ( 15371125 )
2004
5
Pathology teach and tell: acrocephalosyndactyly type I (Apert syndrome). ( 15768864 )
2004
6
A case of acrocephalosyndactyly with low imperforate anus. ( 14694405 )
2004
7
Acrocephalosyndactyly -- the coalesced hand. ( 11967760 )
2002
8
Acrocephalosyndactyly--type I (Apert's syndrome). ( 10778643 )
1999
9
Acrocephalosyndactyly syndromes: a review. ( 9482052 )
1997
10
Esophageal stenosis in acrocephalosyndactyly type I. ( 7802047 )
1994
11
Phenotypic variation in acrocephalosyndactyly syndromes: unusual findings in patient with features of Apert and Saethre-Chotzen syndromes. ( 7833342 )
1994
12
FGFR-Related Craniosynostosis Syndromes ( 20301628 )
1993
13
Apert's syndrome (acrocephalosyndactyly) in a patient with hyperhidrosis. ( 8261804 )
1993
14
Pfeiffer acrocephalosyndactyly syndrome in mother and son with cloverleaf skull anomaly in the child. ( 1472357 )
1992
15
Apert syndrome with partial polysyndactyly: a proposal on the classification of acrocephalosyndactyly. ( 3251081 )
1988
16
Agenesis of the corpus callosum and limbic malformation in Apert syndrome (type I acrocephalosyndactyly). ( 3619717 )
1987
17
Acrocephalosyndactyly. Apert's syndrome--case report of a rarity. ( 3481532 )
1987
18
Acrocephalosyndactyly: comparison of morphometric measurements in Pfeiffer, Saethre-Chotzen, Carpenter and Apert syndrome. ( 3482048 )
1986
19
Picture of the month. Pfeiffer's syndrome (acrocephalosyndactyly type V). ( 6637937 )
1983
20
An unusual form of familial acrocephalosyndactyly. ( 7120317 )
1982
21
Pfeiffer's type of acrocephalosyndactyly in two families. ( 7120318 )
1982
22
Autosomal recessive acrocephalosyndactyly revisited. ( 7395920 )
1980
23
Apert's syndrome--a type of acrocephalosyndactyly (a case report). ( 501671 )
1979
24
Phenotype definition and recurrence risk in the acrocephalosyndactyly syndromes. ( 526591 )
1979
25
The foot and Apert's syndrome: acrocephalosyndactyly. ( 701726 )
1978
26
Linkage analysis in dominant acrocephalosyndactyly. ( 712761 )
1978
27
The pathogenesis of premature craniosynostosis in acrocephalosyndactyly (Apert's syndrome). A reconsideration. ( 850706 )
1977
28
The acrocephalosyndactyly syndromes: a metacarpophalangeal pattern profile analysis. ( 856510 )
1977
29
Are the acrocephalosyndactyly syndromes variable expressions of a single gene defect? ( 890108 )
1977
30
On the classification of the acrocephalosyndactyly syndromes. ( 908170 )
1977
31
Apert's syndrome (acrocephalosyndactyly). A description and a report on seven cases. ( 171118 )
1975
32
Apert's syndrome (the typical form of acrocephalosyndactyly): report of two cases. ( 1133508 )
1975
33
Acrocephalosyndactyly and partial trisomy 6. ( 1240777 )
1975
34
Acrocephalosyndactyly. (Apert's syndrome). ( 4411823 )
1974
35
Acrocephalosyndactyly: report of a case. ( 4503359 )
1972
36
Acrocephalosyndactyly. Report of a case, with review of the literature. ( 5037285 )
1972
37
Acrocephalosyndactyly. ( 5051773 )
1972
38
Otologic manifestations of acrocephalosyndactyly. ( 5081915 )
1972
39
Pilosebaceous abnormalities in Apert type acrocephalosyndactyly. ( 4281326 )
1971
40
Facial variability in Apert type acrocephalosyndactyly. ( 5173202 )
1971
41
Apert's acrocephalosyndactyly in mother and daughter: cleft palate in the mother. ( 5173217 )
1971
42
Oral manifestations of acrocephalosyndactyly Apert's syndrome, a case report. ( 5283910 )
1971
43
Acrocephalosyndactyly type 3: Chotzen's syndrome. ( 4393456 )
1970
44
Acrocephalosyndactyly with unilateral elevator palsy. ( 5524818 )
1970
45
Acrocephalosyndactyly (Apert's syndrome). ( 5347304 )
1969
46
Acrocephalosyndactyly, or Apert's syndrome. ( 5698554 )
1968
47
Acrocephalosyndactyly (Apert's syndrome). Report of a case. ( 5719653 )
1968
48
Acrocephalosyndactyly (Apert's syndrome). ( 6027737 )
1967
49
Progressive synosteosis in Apert's syndrome (acrocephalosyndactyly), with a description of roentgenographic changes in the feet. ( 5938051 )
1966
50
ACROCEPHALOSYNDACTYLY IN SINGAPORE. A STUDY OF FIVE CHINESE MALES. ( 14128309 )
1964

Variations for Fgfr-Related Craniosynostosis Syndromes

Expression for Fgfr-Related Craniosynostosis Syndromes

Search GEO for disease gene expression data for Fgfr-Related Craniosynostosis Syndromes.

Pathways for Fgfr-Related Craniosynostosis Syndromes

GO Terms for Fgfr-Related Craniosynostosis Syndromes

Sources for Fgfr-Related Craniosynostosis Syndromes

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