MCID: SCP007
MIFTS: 21

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 57 29 13 6 40
Scaphocephaly-Macrocephaly-Maxillary Retrusion-Intellectual Disability Syndrome 59
Scaphocephaly with Maxillary Retrusion and Mental Retardation 75
Familial Scaphocephaly Syndrome, Mcgillivray Type 59
Familial Scaphocephaly Syndrome 75
Fspc 75

Characteristics:

Orphanet epidemiological data:

59
familial scaphocephaly syndrome, mcgillivray type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

OMIM 57 609579
Orphanet 59 ORPHA168624
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 74 C1865070
MedGen 42 C1865070
MeSH 44 D003398

Summaries for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation is FGFR2 (Fibroblast Growth Factor Receptor 2). Affiliated tissues include bone, and related phenotypes are high palate and trigonocephaly

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:

59 32 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 frequent (33%) Frequent (79-30%) HP:0000218
2 trigonocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000243
3 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
4 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
5 mandibular prognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000303
6 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
7 high forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000348
8 upslanted palpebral fissure 59 32 occasional (7.5%) Occasional (29-5%) HP:0000582
9 intellectual disability, mild 59 32 frequent (33%) Frequent (79-30%) HP:0001256
10 toe syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001770
11 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
12 broad hallux phalanx 59 32 occasional (7.5%) Occasional (29-5%) HP:0010059
13 open bite 59 32 frequent (33%) Frequent (79-30%) HP:0010807
14 midface retrusion 59 32 frequent (33%) Frequent (79-30%) HP:0011800
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:

# 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:

41
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:

75
# 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
2 FGFR2 NM_000141.4(FGFR2): c.1576A> G (p.Lys526Glu) single nucleotide variant Pathogenic rs121918507 GRCh38 Chromosome 10, 121498591: 121498591

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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