MCID: SCP007
MIFTS: 20

Scaphocephaly, Maxillary Retrusion, and Mental Retardation malady

Categories: Genetic diseases (common), Neuronal diseases, Mental diseases

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

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

Name: Scaphocephaly, Maxillary Retrusion, and Mental Retardation 49 11
Scaphocephaly with Maxillary Retrusion and Mental Retardation 67 24
 
Familial Scaphocephaly Syndrome 67
Fspc 67

Classifications:



External Ids:

OMIM49 609579
MedGen34 C1865070
MeSH36 D003398

Summaries for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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UniProtKB/Swiss-Prot:67 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, also known as scaphocephaly with maxillary retrusion and mental retardation, is related to familial scaphocephaly syndrome, mcgillivray type, and has symptoms including macrocephaly, hypertelorism and high forehead. An important gene associated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation is FGFR2 (Fibroblast Growth Factor Receptor 2).

Description from OMIM:49 609579

Related Diseases for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Diseases related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1familial scaphocephaly syndrome, mcgillivray type12.4

Symptoms for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Clinical features from OMIM:

609579

HPO human phenotypes related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

(show all 16)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 hypertelorism hallmark (90%) HP:0000316
3 high forehead hallmark (90%) HP:0000348
4 abnormality of the palate typical (50%) HP:0000174
5 dolichocephaly typical (50%) HP:0000268
6 malar flattening typical (50%) HP:0000272
7 dental malocclusion typical (50%) HP:0000689
8 cognitive impairment typical (50%) HP:0100543
9 trigonocephaly occasional (7.5%) HP:0000243
10 mandibular prognathia occasional (7.5%) HP:0000303
11 upslanted palpebral fissure occasional (7.5%) HP:0000582
12 toe syndactyly occasional (7.5%) HP:0001770
13 preaxial foot polydactyly occasional (7.5%) HP:0001841
14 ventriculomegaly occasional (7.5%) HP:0002119
15 dolichocephaly HP:0000268
16 intellectual disability 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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Anatomical Context for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Animal Models for Scaphocephaly, Maxillary Retrusion, and Mental Retardation or affiliated genes

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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:

67
id Symbol AA change Variation ID SNP ID
1FGFR2p.Lys526GluVAR_023788

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)single nucleotide variantPathogenicrs121918507GRCh37Chr 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet