MCID: SCP007
MIFTS: 22

Scaphocephaly, Maxillary Retrusion, and Mental Retardation 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:
50OMIM, 12diseasecard, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 29ICD10 via Orphanet, 35MedGen, 37MeSH
See all MalaCards sources

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

Name: Scaphocephaly, Maxillary Retrusion, and Mental Retardation 50 12
Scaphocephaly with Maxillary Retrusion and Mental Retardation 68 25
Scaphocephaly-Macrocephaly-Maxillary Retrusion-Intellectual Disability Syndrome 52
 
Familial Scaphocephaly Syndrome, Mcgillivray Type 52
Familial Scaphocephaly Syndrome 68
Fspc 68

Characteristics:

Orphanet epidemiological data:

52
scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

OMIM50 609579
Orphanet52 ORPHA168624
ICD10 via Orphanet29 Q87.0
MedGen35 C1865070
MeSH37 D003398

Summaries for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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UniProtKB/Swiss-Prot:68 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 macrocephaly, hypertelorism and high forehead. 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:50 609579

Related Diseases for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Symptoms for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Clinical features from OMIM:

609579

Symptoms:

 52 (show all 14)
  • high palate
  • trigonocephaly
  • macrocephaly
  • dolichocephaly
  • mandibular prognathia
  • hypertelorism
  • high forehead
  • upslanted palpebral fissure
  • intellectual disability, mild
  • toe syndactyly
  • ventriculomegaly
  • broad hallux phalanx
  • open bite
  • midface retrusion

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

id Genetic test Affiliating Genes
1 Scaphocephaly, Maxillary Retrusion, and Mental Retardation25

Anatomical Context for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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

34
Bone

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:

68
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)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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet