MCID: SCP007
MIFTS: 23

Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases, Neuronal diseases, Mental 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 54 29 13
Scaphocephaly-Macrocephaly-Maxillary Retrusion-Intellectual Disability Syndrome 56
Scaphocephaly with Maxillary Retrusion and Mental Retardation 71
Scaphocephaly, Maxillary Retrusion and Mental Retardation 24
Familial Scaphocephaly Syndrome, Mcgillivray Type 56
Familial Scaphocephaly Syndrome 71
Fspc 71

Characteristics:

Orphanet epidemiological data:

56
familial scaphocephaly syndrome, mcgillivray type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



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 ventriculomegaly, high forehead and hypertelorism. 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:

56 32 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ventriculomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002119
2 high forehead 56 32 hallmark (90%) Very frequent (99-80%) HP:0000348
3 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
4 trigonocephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000243
5 macrocephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000256
6 intellectual disability, mild 56 32 frequent (33%) Frequent (79-30%) HP:0001256
7 toe syndactyly 56 32 occasional (7.5%) Occasional (29-5%) HP:0001770
8 midface retrusion 56 32 frequent (33%) Frequent (79-30%) HP:0011800
9 high palate 56 32 frequent (33%) Frequent (79-30%) HP:0000218
10 dolichocephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000268
11 open bite 56 32 frequent (33%) Frequent (79-30%) HP:0010807
12 mandibular prognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000303
13 broad hallux phalanx 56 32 occasional (7.5%) Occasional (29-5%) HP:0010059
14 upslanted palpebral fissure 56 32 occasional (7.5%) Occasional (29-5%) HP:0000582
15 intellectual disability 32 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:

id Genetic test Affiliating Genes
1 Scaphocephaly, Maxillary Retrusion, and Mental Retardation 29
2 Scaphocephaly, Maxillary Retrusion and Mental Retardation 24 FGFR2

Anatomical Context for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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

39
Bone

Publications for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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

71
id 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
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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