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 52 54
Syndactyly 11 48 27 50 39 13
Syndactyly Type 1 48 54 27
Chromosome 2q35 Duplication Syndrome 52 11
Syndactyly, Type I 12 68
Craniosynostosis Philadelphia Type 48
 
Webbing of Digits 11
Symphalangism 11
Zygodactyly 48
Symphalangy 11
Sdty1 48
Sd1 48

Characteristics:

Orphanet epidemiological data:

54
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:

64
craniosynostosis, philadelphia type:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 185900
Disease Ontology11 DOID:11193
ICD1030 Q70, Q70.9
ICD9CM32 755.1
MeSH39 D013576
NCIt45 C87125
ICD10 via Orphanet31 Q87.0, Q70.3, Q70.0 Q70.1, Q70.2, more

Summaries for Craniosynostosis, Philadelphia Type

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NIH Rare Diseases:48 Syndactyly is a term used to describe webbed or conjoined digits (fingers or toes). It may occur as an isolated finding or may be a symptom of a genetic syndrome. There are over 300 genetic syndromes that involve syndactyly, such as Apert syndrome and Saethre-Chotzen syndrome. There are many different ways to classify or group non-syndromic (isolated) syndactyly. Presently, researchers classify the different types of syndactyly based on how severe the syndactyly is, which digits are involved, how the trait appears to run through families, and whether an underlying gene mutation has been identified. Using this system, nine different non-syndromic types of syndactyly have been defined.  Syndactyly is caused by a mixture of genetic and environmental factors. In about 10-40% of individuals with syndactyly, there is a family history. Syndactyly can run through families in many different ways, depending on the underlying cause. When isolated, it can be inherited in an autosomal dominant, autosomal recessive, or X-linked recessive manner. Treatment usually involves surgery to separate the digits. Last updated: 12/15/2016

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 Decreased substrate adherent cell growth and hearing/vestibular/ear.

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

Description from OMIM:52 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 & Phenotypes 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:

 64 54 (show all 9)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 long palpebral fissure64 54 hallmark (90%) Very frequent (99-80%) HP:0000637
2 craniosynostosis64 54 hallmark (90%) Very frequent (99-80%) HP:0001363
3 finger syndactyly64 54 hallmark (90%) Very frequent (99-80%) HP:0006101
4 toe syndactyly64 54 hallmark (90%) Very frequent (99-80%) HP:0001770
5 symphalangism affecting the phalanges of the hand64 54 occasional (7.5%) Occasional (29-5%) HP:0009773
6 sagittal craniosynostosis64 rare (5%) HP:0004442
7 distal symphalangism of hands64 HP:0001204
8 2-3 toe syndactyly64 HP:0004691
9 3-4 finger syndactyly64 HP:0006097

GenomeRNAi Phenotypes related to Craniosynostosis, Philadelphia Type according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00193-A-310.1AKT3, FGFR2, FGFR3

MGI Mouse Phenotypes related to Craniosynostosis, Philadelphia Type according to GeneCards Suite gene sharing:

41 (show all 19)
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

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 127
2 Syndactyly27

Anatomical Context for Craniosynostosis, Philadelphia Type

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MalaCards organs/tissues related to Craniosynostosis, Philadelphia Type:

36
Bone, Skin

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
1gland morphogenesisGO:002261210.8FGFR2, HOXD13
2embryonic digestive tract morphogenesisGO:004855710.7FGFR2, GLI3
3negative regulation of alpha-beta T cell differentiationGO:004663910.7GLI3, IHH
4positive regulation of alpha-beta T cell differentiationGO:004663810.7GLI3, IHH
5positive regulation of chondrocyte differentiationGO:003233210.7GLI3, IHH
6positive regulation of phospholipase activityGO:001051810.6FGFR2, FGFR3
7prostate epithelial cord arborization involved in prostate glandular acinus morphogenesisGO:006052710.6FGFR2, HOXD13
8regulation of branching involved in prostate gland morphogenesisGO:006068710.6FGFR2, HOXD13
9embryonic hindgut morphogenesisGO:004861910.5HOXA13, HOXD13
10limb morphogenesisGO:003510810.5FBN2, GLI3, HOXD13
11mesenchymal cell differentiationGO:004876210.3FGFR2, NOG
12morphogenesis of an epitheliumGO:000200910.3FRAS1, FREM2
13negative regulation of cardiac muscle cell proliferationGO:006004410.3GJA1, NOG
14positive regulation of mesenchymal cell proliferationGO:000205310.1FBXW4, FGFR2, TP63
15prostatic bud formationGO:006051310.1NOG, TP63
16cell-cell signalingGO:000726710.1FGFR2, FGFR3, GJA1, IHH
17positive regulation of osteoblast differentiationGO:004566910.1FBN2, GJA1, GLI3, TP63
18cell communicationGO:000715410.1FRAS1, FREM2, GJA1
19positive regulation of epithelial cell proliferationGO:005067910.1FGFR2, IHH, NOG
20anatomical structure formation involved in morphogenesisGO:004864610.1GLI3, NOG, TP63
21squamous basal epithelial stem cell differentiation involved in prostate gland acinus developmentGO:00605299.9FGFR2, TP63
22in utero embryonic developmentGO:00017019.9FGFR2, GJA1, GLI3, NOG
23limb developmentGO:00601739.8FBXW4, GLI3, NOG
24pattern specification processGO:00073899.8GLI3, HOXD13, NOG, TP63
25somite developmentGO:00610539.5IHH, NOG
26embryonic limb morphogenesisGO:00303269.2FBN2, FBXW4, FRAS1, GLI3, HOXD13, TP63
27positive regulation of transcription from RNA polymerase II promoterGO:00459449.2FGFR2, GLI3, HOXD13, IHH, NOG, TP63
28embryonic digit morphogenesisGO:00427338.5FBXW4, GJA1, GLI3, HOXD13, LMBR1, NOG
29skeletal system developmentGO:00015018.5FGFR3, HOXA13, HOXD13, IHH, NOG, TP63

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet