MCID: SCP007
MIFTS: 21

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

About this section
Sources:
12diseasecard, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 51OMIM, 53Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Scaphocephaly, Maxillary Retrusion, and Mental Retardation 51 12
Scaphocephaly with Maxillary Retrusion and Mental Retardation 69 26
Scaphocephaly-Macrocephaly-Maxillary Retrusion-Intellectual Disability Syndrome 53
 
Familial Scaphocephaly Syndrome, Mcgillivray Type 53
Familial Scaphocephaly Syndrome 69
Fspc 69

Characteristics:

Orphanet epidemiological data:

53
scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

OMIM51 609579
Orphanet53 ORPHA168624
ICD10 via Orphanet30 Q87.0
MedGen36 C1865070
MeSH38 D003398

Summaries for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

About this section
UniProtKB/Swiss-Prot:69 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:51 609579

Related Diseases for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

About this section

Symptoms for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

About this section


Clinical features from OMIM:

609579

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

 63 53 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hypertelorism63 53 hallmark (90%) Very frequent (99-80%) HP:0000316
3 high forehead63 53 hallmark (90%) Very frequent (99-80%) HP:0000348
4 abnormality of the palate63 typical (50%) HP:0000174
5 dolichocephaly63 53 typical (50%) Frequent (79-30%) HP:0000268
6 malar flattening63 typical (50%) HP:0000272
7 dental malocclusion63 typical (50%) HP:0000689
8 cognitive impairment63 typical (50%) HP:0100543
9 trigonocephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0000243
10 mandibular prognathia63 53 occasional (7.5%) Occasional (29-5%) HP:0000303
11 upslanted palpebral fissure63 53 occasional (7.5%) Occasional (29-5%) HP:0000582
12 toe syndactyly63 53 occasional (7.5%) Occasional (29-5%) HP:0001770
13 preaxial foot polydactyly63 occasional (7.5%) HP:0001841
14 ventriculomegaly63 53 occasional (7.5%) Occasional (29-5%) HP:0002119
15 intellectual disability63 HP:0001249
16 high palate53 Frequent (79-30%)
17 intellectual disability, mild53 Frequent (79-30%)
18 broad hallux phalanx53 Occasional (29-5%)
19 open bite53 Frequent (79-30%)
20 midface retrusion53 Frequent (79-30%)

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

About this section

Interventional clinical trials:

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

Genetic Tests for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

About this section

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

id Genetic test Affiliating Genes
1 Scaphocephaly, Maxillary Retrusion, and Mental Retardation26

Anatomical Context for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

About this section

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

35
Bone

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

About this section

Publications for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

About this section

Variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

About this section

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

69
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

About this section
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

About this section

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

About this section

Sources for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

About this section
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