FSPC
MCID: SCP007
MIFTS: 22

Scaphocephaly, Maxillary Retrusion, and Mental Retardation (FSPC) malady

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Sources:
12diseasecard, 24GeneTests, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 52OMIM, 54Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

Name: Scaphocephaly, Maxillary Retrusion, and Mental Retardation 52 12
Scaphocephaly with Maxillary Retrusion and Mental Retardation 70 27
Scaphocephaly-Macrocephaly-Maxillary Retrusion-Intellectual Disability Syndrome 54
Scaphocephaly, Maxillary Retrusion and Mental Retardation 24
 
Familial Scaphocephaly Syndrome, Mcgillivray Type 54
Familial Scaphocephaly Syndrome 70
Fspc 70

Characteristics:

Orphanet epidemiological data:

54
scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

OMIM52 609579
Orphanet54 ORPHA168624
ICD10 via Orphanet31 Q87.0
MedGen37 C1865070
MeSH39 D003398

Summaries for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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UniProtKB/Swiss-Prot:70 Familial scaphocephaly syndrome: An autosomal dominant craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability. Scaphocephaly is the most common of the craniosynostosis conditions and is characterized by a long, narrow head. It is due to premature fusion of the sagittal suture or from external deformation.

MalaCards based summary: Scaphocephaly, Maxillary Retrusion, and Mental Retardation, is also known as scaphocephaly with maxillary retrusion and mental retardation, and has symptoms including Array, Array and Array. An important gene associated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation is FGFR2 (Fibroblast Growth Factor Receptor 2). Affiliated tissues include bone.

Description from OMIM:52 609579

Related Diseases for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Symptoms & Phenotypes for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Clinical features from OMIM:

609579

Human phenotypes related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

 54 64 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate64 54 Frequent (79-30%) HP:0000218
2 trigonocephaly64 54 Occasional (29-5%) HP:0000243
3 macrocephaly64 54 Very frequent (99-80%) HP:0000256
4 dolichocephaly64 54 Frequent (79-30%) HP:0000268
5 mandibular prognathia64 54 Occasional (29-5%) HP:0000303
6 hypertelorism64 54 Very frequent (99-80%) HP:0000316
7 high forehead64 54 Very frequent (99-80%) HP:0000348
8 upslanted palpebral fissure64 54 Occasional (29-5%) HP:0000582
9 intellectual disability, mild64 54 Frequent (79-30%) HP:0001256
10 toe syndactyly64 54 Occasional (29-5%) HP:0001770
11 ventriculomegaly64 54 Occasional (29-5%) HP:0002119
12 broad hallux phalanx64 54 Occasional (29-5%) HP:0010059
13 open bite64 54 Frequent (79-30%) HP:0010807
14 midface retrusion64 54 Frequent (79-30%) HP:0011800
15 intellectual disability64 HP:0001249

Drugs & Therapeutics for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Genetic Tests for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Genetic tests related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

id Genetic test Affiliating Genes
1 Scaphocephaly, Maxillary Retrusion, and Mental Retardation27
2 Scaphocephaly, Maxillary Retrusion and Mental Retardation24 FGFR2

Anatomical Context for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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MalaCards organs/tissues related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

36
Bone

Publications for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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UniProtKB/Swiss-Prot genetic disease variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

70
id Symbol AA change Variation ID SNP ID
1FGFR2p.Lys526GluVAR_023788rs121918507

Clinvar genetic disease variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR2NM_ 000141.4(FGFR2): c.1576A> G (p.Lys526Glu)SNVPathogenicrs121918507GRCh37Chr 10, 123258105: 123258105

Expression for genes affiliated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Search GEO for disease gene expression data for Scaphocephaly, Maxillary Retrusion, and Mental Retardation.

Pathways for genes affiliated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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GO Terms for genes affiliated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Sources for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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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