FSPC
MCID: SCP007
MIFTS: 27

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 56 29 13 6 39
Scaphocephaly-Macrocephaly-Maxillary Retrusion-Intellectual Disability Syndrome 58
Scaphocephaly with Maxillary Retrusion and Mental Retardation 73
Familial Scaphocephaly Syndrome, Mcgillivray Type 58
Familial Scaphocephaly Syndrome 73
Fspc 73

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 bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 609579
MeSH 43 D003398
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 72 C1865070
Orphanet 58 ORPHA168624
MedGen 41 C1865070

Summaries for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

UniProtKB/Swiss-Prot : 73 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 familial scaphocephaly syndrome and mcgillivray syndrome. An important gene associated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation is FGFR2 (Fibroblast Growth Factor Receptor 2). Affiliated tissues include bone, skin and testes, and related phenotypes are hypertelorism 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 familial scaphocephaly syndrome 12.5
2 mcgillivray syndrome 11.6
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 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
3 high forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000348
4 open bite 58 31 frequent (33%) Frequent (79-30%) HP:0010807
5 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
6 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
7 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
8 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
9 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
10 broad hallux phalanx 58 31 occasional (7.5%) Occasional (29-5%) HP:0010059
11 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
12 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
13 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001770
14 trigonocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000243
15 intellectual disability 31 HP:0001249

Clinical features from OMIM:

609579

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
Bone, Skin, Testes

Publications for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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

# Title Authors PMID Year
1
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 6 56
16061565 2005
2
Fibroblast growth factor receptor-1 (FGFR-1) is essential for normal neural tube and limb development. 6
9169049 1997
3
Recovery after surgery: do not forget to check iron status before. 61
31692546 2019
4
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
5
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
6
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
7
Reliability of skin-type self-assessment: agreement of adolescents' repeated Fitzpatrick skin phototype classification ratings during a cohort study. 61
22035130 2012
8
Cyclic strain increases fibroblast proliferation, matrix accumulation, and elastic modulus of fibroblast-seeded polyurethane constructs. 61
16256125 2006
9
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 GRCh37 Pos GRCh38 Pos
1 FGFR2 NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr)SNV Pathogenic 13263 rs121918487 10:123276892-123276892 10:121517378-121517378
2 FGFR2 NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)SNV Pathogenic 13268 rs121918491 10:123276885-123276885 10:121517371-121517371
3 FGFR2 NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp)SNV Pathogenic 13272 rs79184941 10:123279677-123279677 10:121520163-121520163
4 FGFR2 NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)SNV Pathogenic 13273 rs77543610 10:123279674-123279674 10:121520160-121520160
5 FGFR2 NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)SNV Pathogenic 13277 rs121913478 10:123274794-123274794 10:121515280-121515280
6 FGFR2 NM_000141.5(FGFR2):c.1576A>G (p.Lys526Glu)SNV Pathogenic 13295 rs121918507 10:123258105-123258105 10:121498591-121498591
7 FGFR2 NM_022970.3(FGFR2):c.314A>G (p.Tyr105Cys)SNV Pathogenic 449024 rs1434545235 10:123325014-123325014 10:121565500-121565500
8 FGFR2 NM_000141.5(FGFR2):c.1150G>A (p.Gly384Arg)SNV Pathogenic 478046 rs1554927408 10:123274768-123274768 10:121515254-121515254
9 FGFR2 NM_000141.5(FGFR2):c.1013G>A (p.Gly338Glu)SNV Pathogenic/Likely pathogenic 374817 rs1057519044 10:123276904-123276904 10:121517390-121517390
10 FGFR2 NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln)SNV Conflicting interpretations of pathogenicity 577711 rs199757302 10:123276928-123276928 10:121517414-121517414

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

73
# 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

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10 dbSNP
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32 ICD10
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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