MCID: CRN245
MIFTS: 50

Craniosynostosis, Philadelphia Type malady

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Craniosynostosis, Philadelphia Type

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Aliases & Descriptions for Craniosynostosis, Philadelphia Type:

Name: Craniosynostosis, Philadelphia Type 51 53
Syndactyly 11 47 26 49 38 13
Syndactyly Type 1 47 53 26
Chromosome 2q35 Duplication Syndrome 51 11
Syndactyly, Type I 12 67
Craniosynostosis Philadelphia Type 47
 
Webbing of Digits 11
Symphalangism 11
Zygodactyly 47
Symphalangy 11
Sdty1 47
Sd1 47

Characteristics:

Orphanet epidemiological data:

53
craniosynostosis, philadelphia type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal
syndactyly type 1:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

63
craniosynostosis, philadelphia type:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 185900
Disease Ontology11 DOID:11193
ICD1029 Q70, Q70.9
ICD9CM31 755.1
MeSH38 D013576
NCIt44 C87125
ICD10 via Orphanet30 Q87.0, Q70.3, Q70.0 Q70.1, Q70.2, more

Summaries for Craniosynostosis, Philadelphia Type

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NIH Rare Diseases:47 Syndactyly type 1 is a congenital limb developmental defect that involves webbing or joining of the fingers or toes. Syndactyly type 1 is the most common type of non-syndromic syndactyly. Individuals with syndactyly type 1 have webbing of the third and fourth fingers and/or between the second and third toes. Other digits may be involved, as well as the underlying bones. There are four different subtypes of syndactyly type 1, differentiated by slightly different hand and foot symptoms. Syndactyly type 1 may be inherited in an autosomal dominant manner and is suspected to be caused by a gene mutation on the long (q) arm of chromosome 2 between 2q34 and 2q36. Treatment usually involves surgery to separate the digits. Last updated: 12/16/2016

MalaCards based summary: Craniosynostosis, Philadelphia Type, also known as syndactyly, is related to apert syndrome and ablepharon-macrostomia syndrome, and has symptoms including long palpebral fissure, craniosynostosis and finger syndactyly. An important gene associated with Craniosynostosis, Philadelphia Type is CUP2Q35 (Syndactyly, Type I), and among its related pathways are Endochondral Ossification and Signaling pathways regulating pluripotency of stem cells. Affiliated tissues include bone and skin, and related mouse phenotypes are hearing/vestibular/ear and muscle.

Disease Ontology:11 A synostosis that results in the fusion of two or more digits.

Description from OMIM:51 185900

Related Diseases for Craniosynostosis, Philadelphia Type

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Diseases related to Craniosynostosis, Philadelphia Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 153)
idRelated DiseaseScoreTop Affiliating Genes
1apert syndrome32.9FGFR2, FGFR3
2ablepharon-macrostomia syndrome30.4FRAS1, FREM2
3syndactyly, type iii12.3
4syndactyly, type v12.3
5syndactyly, type iv12.3
6symphalangism, proximal, 1a12.2
7syndactyly, mesoaxial synostotic, with phalangeal reduction12.2
8brachydactyly-syndactyly syndrome12.2
9cenani-lenz syndactyly syndrome12.1
10symphalangism, distal12.1
11symphalangism, proximal, 1b12.0
12ectodermal dysplasia-syndactyly syndrome 112.0
13star syndrome11.9
14synpolydactyly11.8
15syndactyly type 611.8
16symphalangism with multiple anomalies of hands and feet11.8
17thai symphalangism syndrome11.8
18syndactyly type 1 with cataracts and mental retardation11.8
19syndactyly-polydactyly-earlobe syndrome11.8
20brachydactyly-distal symphalangism syndrome11.7
21symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch11.7
22ectodermal dysplasia-syndactyly syndrome 211.7
23blepharophimosis with ptosis, syndactyly, and short stature11.7
24timothy syndrome11.7
25aphalangia, partial, with syndactyly and duplication of metatarsal iv11.7
26eyebrows, duplication of, with stretchable skin and syndactyly11.7
27ectodermal dysplasia mental retardation syndactyly11.7
28symphalangism brachydactyly craniosynostosis11.7
29symphalangism short stature accessory testis11.7
30tracheoesophageal fistula symphalangism11.7
31coronal synostosis, syndactyly and jejunal atresia11.7
32filippi syndrome11.6
33cleft lip palate oligodontia syndactyly pili torti11.6
34hydrops ectrodactyly syndactyly11.6
35sclerocornea, syndactyly, ambiguous genitalia11.6
36syndactyly cataract mental retardation11.6
37syndactyly ectodermal dysplasia cleft lip palate hand foot11.6
38tricho odonto onychodysplasia syndactyly dominant type11.6
39autosomal dominant trichoodontoonychodysplasia-syndactyly11.6
40ptosis-syndactyly-learning difficulties syndrome11.6
41fbln1-related developmental delay-central nervous system anomaly-syndactyly syndrome11.6
42fraser syndrome11.6
43synpolydactyly, type ii11.5
44zygodactyly 111.5
45cleft lip/palate-ectodermal dysplasia syndrome11.5
46greig cephalopolysyndactyly syndrome11.4
47poland syndrome11.4
48saethre-chotzen syndrome11.4
49stapes ankylosis with broad thumb and toes11.3
50oculodentodigital dysplasia11.3

Graphical network of the top 20 diseases related to Craniosynostosis, Philadelphia Type:



Diseases related to craniosynostosis, philadelphia type

Symptoms for Craniosynostosis, Philadelphia Type

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Symptoms by clinical synopsis from OMIM:

185900

Clinical features from OMIM:

185900

Human phenotypes related to Craniosynostosis, Philadelphia Type:

 63 53 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 long palpebral fissure63 53 hallmark (90%) Very frequent (99-80%) HP:0000637
2 craniosynostosis63 53 hallmark (90%) Very frequent (99-80%) HP:0001363
3 finger syndactyly63 53 hallmark (90%) Very frequent (99-80%) HP:0006101
4 toe syndactyly63 53 hallmark (90%) Very frequent (99-80%) HP:0001770
5 symphalangism affecting the phalanges of the hand63 53 occasional (7.5%) Occasional (29-5%) HP:0009773
6 sagittal craniosynostosis63 rare (5%) HP:0004442
7 distal symphalangism of hands63 HP:0001204
8 2-3 toe syndactyly63 HP:0004691
9 3-4 finger syndactyly63 HP:0006097

Drugs & Therapeutics for Craniosynostosis, Philadelphia Type

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Interventional clinical trials:

idNameStatusNCT IDPhase
1A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome PatientsCompletedNCT00961896Phase 2
2Genetic Analysis of Fraser Syndrome and Fryns SyndromeCompletedNCT00032877
3Study of Skeletal Disorders and Short StatureCompletedNCT00001754
4Genetic Analysis of Craniosynostosis, Philadelphia TypeCompletedNCT00367796
5Treatment of Proximal Interphalangeal Joint Injuries. Clinical Efficiency of Syndactyly Treatment and Digital CompressionRecruitingNCT02548260
6Syndactyly Repair: Comparison of Skin Graft and No Skin Graft TechniquesActive, not recruitingNCT01416090

Search NIH Clinical Center for Craniosynostosis, Philadelphia Type


Cochrane evidence based reviews: syndactyly

Genetic Tests for Craniosynostosis, Philadelphia Type

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Genetic tests related to Craniosynostosis, Philadelphia Type:

id Genetic test Affiliating Genes
1 Syndactyly Type 126
2 Syndactyly26

Anatomical Context for Craniosynostosis, Philadelphia Type

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MalaCards organs/tissues related to Craniosynostosis, Philadelphia Type:

35
Bone, Skin

Animal Models for Craniosynostosis, Philadelphia Type or affiliated genes

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MGI Mouse Phenotypes related to Craniosynostosis, Philadelphia Type:

40 (show all 20)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9FGFR2, FGFR3, FREM2, GJA1, GLI3, NOG
2MP:00053698.2FBN2, FGFR2, FREM2, GJA1, HOXD13, IHH
3MP:00030128.0FBXW4, FGFR2, FGFR3, FRAS1, GJA1, GLI3
4MP:00053797.8AKT3, FGFR2, GJA1, GLI3, HOXA13, HOXD13
5MP:00053827.5FGFR2, FGFR3, FRAS1, FREM2, GJA1, GLI3
6MP:00053887.4FBN2, FGFR2, FGFR3, FRAS1, FREM2, GJA1
7MP:00053847.4AKT3, FBN2, FGFR2, FGFR3, FRAS1, GJA1
8MP:00036317.4AKT3, FGFR2, FGFR3, FREM2, GJA1, GLI3
9MP:00053897.2AKT3, FGFR2, FGFR3, FREM2, GJA1, GLI3
10MP:00053817.0FGFR2, FGFR3, FRAS1, GLI3, HOXA13, HOXD13
11MP:00053806.9FBXW4, FGFR2, FREM2, GJA1, GLI3, GRIP1
12MP:00053676.8FGFR2, FGFR3, FRAS1, FREM2, GLI3, GRIP1
13MP:00107716.8FGFR2, FGFR3, FRAS1, FREM2, GJA1, GLI3
14MP:00053916.2FBN2, FGFR2, FGFR3, FRAS1, FREM2, GJA1
15MP:00053856.1AKT3, FBN2, FGFR2, FRAS1, FREM2, GJA1
16MP:00053905.3FBN2, FBXW4, FGFR2, FGFR3, FRAS1, FREM2
17MP:00053715.0FBN2, FBXW4, FGFR2, FGFR3, FRAS1, FREM2
18MP:00053784.9AKT3, FBN2, FGFR2, FGFR3, FRAS1, FREM2
19MP:00107684.4AKT3, FBN2, FBXW4, FGFR2, FGFR3, FRAS1

Publications for Craniosynostosis, Philadelphia Type

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Articles related to Craniosynostosis, Philadelphia Type:

idTitleAuthorsYear
1
Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements. (25692887)
2015
2
Locus homogeneity between syndactyly type 1A and craniosynostosis Philadelphia type? (18680190)
2008
3
Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes. (8882401)
1996

Variations for Craniosynostosis, Philadelphia Type

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Copy number variations for Craniosynostosis, Philadelphia Type from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
11420962219500000222200000DuplicationIHHSyndactyly

Expression for genes affiliated with Craniosynostosis, Philadelphia Type

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Search GEO for disease gene expression data for Craniosynostosis, Philadelphia Type.

Pathways for genes affiliated with Craniosynostosis, Philadelphia Type

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GO Terms for genes affiliated with Craniosynostosis, Philadelphia Type

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Biological processes related to Craniosynostosis, Philadelphia Type according to GeneCards Suite gene sharing:

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1prostate epithelial cord arborization involved in prostate glandular acinus morphogenesisGO:006052710.7FGFR2, HOXD13
2embryonic digestive tract morphogenesisGO:004855710.7FGFR2, GLI3
3negative regulation of alpha-beta T cell differentiationGO:004663910.6GLI3, IHH
4gland morphogenesisGO:002261210.6FGFR2, HOXD13
5regulation of branching involved in prostate gland morphogenesisGO:006068710.6FGFR2, HOXD13
6squamous basal epithelial stem cell differentiation involved in prostate gland acinus developmentGO:006052910.6FGFR2, TP63
7positive regulation of alpha-beta T cell differentiationGO:004663810.6GLI3, IHH
8positive regulation of chondrocyte differentiationGO:003233210.6GLI3, IHH
9positive regulation of phospholipase activityGO:001051810.4FGFR2, FGFR3
10negative regulation of cardiac muscle cell proliferationGO:006004410.3GJA1, NOG
11limb morphogenesisGO:003510810.2FBN2, GLI3, HOXD13
12somite developmentGO:006105310.2IHH, NOG
13mesenchymal cell differentiationGO:004876210.2FGFR2, NOG
14prostatic bud formationGO:006051310.2NOG, TP63
15embryonic hindgut morphogenesisGO:004861910.2HOXA13, HOXD13
16morphogenesis of an epitheliumGO:000200910.1FRAS1, FREM2
17positive regulation of mesenchymal cell proliferationGO:00020539.9FBXW4, FGFR2, TP63
18positive regulation of osteoblast differentiationGO:00456699.8FBN2, GJA1, GLI3, TP63
19positive regulation of epithelial cell proliferationGO:00506799.6FGFR2, IHH, NOG
20anatomical structure formation involved in morphogenesisGO:00486469.6GLI3, NOG, TP63
21cell-cell signalingGO:00072679.6FGFR2, FGFR3, GJA1, IHH
22in utero embryonic developmentGO:00017019.6FGFR2, GJA1, GLI3, NOG
23limb developmentGO:00601739.5FBXW4, GLI3, NOG
24pattern specification processGO:00073899.5GLI3, HOXD13, NOG, TP63
25cell communicationGO:00071549.4FRAS1, FREM2, GJA1
26embryonic limb morphogenesisGO:00303268.8FBN2, FBXW4, FRAS1, GLI3, HOXD13, TP63
27positive regulation of transcription from RNA polymerase II promoterGO:00459448.6FGFR2, GLI3, HOXD13, IHH, NOG, TP63
28skeletal system developmentGO:00015018.3FGFR3, HOXA13, HOXD13, IHH, NOG, TP63
29embryonic digit morphogenesisGO:00427338.2FBXW4, GJA1, GLI3, HOXD13, LMBR1, NOG

Molecular functions related to Craniosynostosis, Philadelphia Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.9FGFR2, FGFR3

Sources for Craniosynostosis, Philadelphia Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet