MCID: SCP007
MIFTS: 21

Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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

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

MalaCards integrated aliases for Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

Name: Scaphocephaly, Maxillary Retrusion, and Mental Retardation 53 28 13
Scaphocephaly-Macrocephaly-Maxillary Retrusion-Intellectual Disability Syndrome 55
Scaphocephaly with Maxillary Retrusion and Mental Retardation 71
Familial Scaphocephaly Syndrome, Mcgillivray Type 55
Familial Scaphocephaly Syndrome 71
Fspc 71

Characteristics:

Orphanet epidemiological data:

55
familial scaphocephaly syndrome, mcgillivray type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

OMIM 53 609579
Orphanet 55 ORPHA168624
UMLS via Orphanet 70 C1865070
ICD10 via Orphanet 33 Q87.0
MedGen 39 C1865070
MeSH 41 D003398

Summaries for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

UniProtKB/Swiss-Prot : 71 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-macrocephaly-maxillary retrusion-intellectual disability syndrome, and has symptoms including macrocephaly, hypertelorism and high palate. 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: 609579

Related Diseases for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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

Clinical features from OMIM:

609579

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

55 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000256
2 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 high palate 55 31 frequent (33%) Frequent (79-30%) HP:0000218
4 mandibular prognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000303
5 open bite 55 31 frequent (33%) Frequent (79-30%) HP:0010807
6 broad hallux phalanx 55 31 occasional (7.5%) Occasional (29-5%) HP:0010059
7 intellectual disability, mild 55 31 frequent (33%) Frequent (79-30%) HP:0001256
8 dolichocephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000268
9 ventriculomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002119
10 upslanted palpebral fissure 55 31 occasional (7.5%) Occasional (29-5%) HP:0000582
11 high forehead 55 31 hallmark (90%) Very frequent (99-80%) HP:0000348
12 midface retrusion 55 31 frequent (33%) Frequent (79-30%) HP:0011800
13 toe syndactyly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001770
14 trigonocephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000243
15 intellectual disability 31 HP:0001249

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

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

Genetic Tests for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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

# Genetic test Affiliating Genes
1 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 28 FGFR2

Anatomical Context for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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

38
Bone

Publications for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Articles related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

# Title Authors Year
1
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. ( 16061565 )
2005

Variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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

71
# Symbol AA change Variation ID SNP ID
1 FGFR2 p.Lys526Glu VAR_023788 rs121918507

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR2 NM_000141.4(FGFR2): c.1576A> G (p.Lys526Glu) single nucleotide variant Pathogenic rs121918507 GRCh37 Chromosome 10, 123258105: 123258105

Expression for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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

Pathways for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

GO Terms for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Sources for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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