FSPC
MCID: SCP007
MIFTS: 25

Scaphocephaly, Maxillary Retrusion, and Mental Retardation (FSPC)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal 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 57 29 13 6 39
Scaphocephaly-Macrocephaly-Maxillary Retrusion-Intellectual Disability Syndrome 58
Scaphocephaly with Maxillary Retrusion and Mental Retardation 72
Familial Scaphocephaly Syndrome, Mcgillivray Type 58
Familial Scaphocephaly Syndrome 72
Fspc 72

Characteristics:

Orphanet epidemiological data:

58
familial scaphocephaly syndrome, mcgillivray type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 609579
MeSH 44 D003398
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 71 C1865070
Orphanet 58 ORPHA168624
MedGen 41 C1865070

Summaries for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

UniProtKB/Swiss-Prot : 72 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-macrocephaly-maxillary retrusion-intellectual disability syndrome, is related to mcgillivray syndrome and familial scaphocephaly syndrome. An important gene associated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation is FGFR2 (Fibroblast Growth Factor Receptor 2). Affiliated tissues include skin, and related phenotypes are dolichocephaly and macrocephaly

More information from OMIM: 609579

Related Diseases for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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

# Related Disease Score Top Affiliating Genes
1 mcgillivray syndrome 11.4
2 familial scaphocephaly syndrome 11.2
3 crouzon syndrome 10.0

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

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

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dolichocephaly 58 31 Frequent (79-30%) HP:0000268
2 macrocephaly 58 Very frequent (99-80%)
3 intellectual disability 31 HP:0001249
4 high palate 58 Frequent (79-30%)
5 hypertelorism 58 Very frequent (99-80%)
6 open bite 58 Frequent (79-30%)
7 mandibular prognathia 58 Occasional (29-5%)
8 broad hallux phalanx 58 Occasional (29-5%)
9 intellectual disability, mild 58 Frequent (79-30%)
10 upslanted palpebral fissure 58 Occasional (29-5%)
11 ventriculomegaly 58 Occasional (29-5%)
12 high forehead 58 Very frequent (99-80%)
13 midface retrusion 58 Frequent (79-30%)
14 toe syndactyly 58 Occasional (29-5%)
15 trigonocephaly 58 Occasional (29-5%)

Clinical features from OMIM®:

609579 (Updated 20-May-2021)

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 29 FGFR2

Anatomical Context for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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

40
Skin

Publications for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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

(show all 11)
# Title Authors PMID Year
1
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 57 6
16061565 2005
2
Fibroblast growth factor receptor-1 (FGFR-1) is essential for normal neural tube and limb development. 6
9169049 1997
3
Validity of the Fitzpatrick Skin Phototype Classification in Ecuador. 61
33208633 2020
4
Self-perceived competency of the medical faculty for E-Teaching during the COVID-19 pandemic. 61
33325429 2020
5
Recovery after surgery: do not forget to check iron status before. 61
31692546 2019
6
A profile of perceived stress factors among nursing staff working with intellectually disabled in-patients at the Free State Psychiatric Complex, South Africa. 61
28397510 2017
7
The use of computed tomography scans and the Bender Gestalt Test in the assessment of competency to stand trial and criminal responsibility in the field of mental health and law. 61
27289503 2017
8
Accountable or not accountable: A profile comparison of alleged offenders referred to the Free State Psychiatric Complex Forensic Observation Ward in Bloemfontein from 2009 to 2012. 61
30263191 2017
9
Reliability of skin-type self-assessment: agreement of adolescents' repeated Fitzpatrick skin phototype classification ratings during a cohort study. 61
22035130 2012
10
Cyclic strain increases fibroblast proliferation, matrix accumulation, and elastic modulus of fibroblast-seeded polyurethane constructs. 61
16256125 2006
11
Effects of fibrin sealant protein concentrate with and without platelet-released growth factors on bony healing of cortical mandibular defects. An experimental study in minipigs. 61
15142092 2004

Variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FGFR2 NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu) SNV Pathogenic 13295 rs121918507 GRCh37: 10:123258105-123258105
GRCh38: 10:121498591-121498591
2 FGFR2 NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg) SNV Pathogenic 478046 rs1554927408 GRCh37: 10:123274768-123274768
GRCh38: 10:121515254-121515254
3 FGFR2 NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) SNV Pathogenic 13277 rs121913478 GRCh37: 10:123274794-123274794
GRCh38: 10:121515280-121515280
4 FGFR2 NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) SNV Pathogenic 13263 rs121918487 GRCh37: 10:123276892-123276892
GRCh38: 10:121517378-121517378
5 FGFR2 NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) SNV Pathogenic 13272 rs79184941 GRCh37: 10:123279677-123279677
GRCh38: 10:121520163-121520163
6 FGFR2 NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys) SNV Pathogenic 449024 rs1434545235 GRCh37: 10:123325014-123325014
GRCh38: 10:121565500-121565500
7 FGFR2 NM_000141.5(FGFR2):c.1032G>A (p.Ala344=) SNV Pathogenic 13268 rs121918491 GRCh37: 10:123276885-123276885
GRCh38: 10:121517371-121517371
8 FGFR2 NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg) SNV Pathogenic 13273 rs77543610 GRCh37: 10:123279674-123279674
GRCh38: 10:121520160-121520160
9 FGFR2 NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu) SNV Likely pathogenic 374817 rs1057519044 GRCh37: 10:123276904-123276904
GRCh38: 10:121517390-121517390
10 FGFR2 NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) SNV Uncertain significance 577711 rs199757302 GRCh37: 10:123276928-123276928
GRCh38: 10:121517414-121517414

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

72
# Symbol AA change Variation ID SNP ID
1 FGFR2 p.Lys526Glu VAR_023788 rs121918507

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
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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