MCID: SCP007
MIFTS: 17

Scaphocephaly, Maxillary Retrusion, and Mental Retardation malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases, Neuronal diseases, Mental diseases categories

Summaries for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: Scaphocephaly, Maxillary Retrusion, and Mental Retardation, is also known as scaphocephaly - macrocephaly - maxillary retrusion - intellectual disability, and has symptoms including dilated cerebral ventricles without hydrocephaly, broad/bifid big toe and syndactyly of toes. 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:48 609579

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

About this section
Sources:
48OMIM, 50Orphanet, 27ICD10 via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
scaphocephaly - macrocephaly - maxillary retrusion - intellectual disability:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

scaphocephaly, maxillary retrusion, and mental retardation 48
scaphocephaly - macrocephaly - maxillary retrusion - intellectual disability 50
familial scaphocephaly syndrome, mcgillivray type 50


External Ids:

OMIM48 609579
ICD10 via Orphanet27 Q87.0

Related Diseases for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

About this section

Symptoms for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

About this section
Sources:
48OMIM, 50Orphanet
See all sources


Clinical features from OMIM:

609579

Symptoms:

50 (show all 16)
  • dilated cerebral ventricles without hydrocephaly
  • broad/bifid big toe
  • syndactyly of toes
  • prognathism/prognathia
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • trigonocephaly
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • high vaulted/narrow palate
  • dental malocclusion
  • mid-facial hypoplasia/short/small midface
  • dolichocephaly/scaphocephaly
  • autosomal dominant inheritance
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • hypertelorism
  • high forehead
  • macrocephaly/macrocrania/megalocephaly/megacephaly

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

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Drug clinical trials:

Search ClinicalTrials for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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

Search CenterWatch for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Genetic Tests for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

About this section

Anatomical Context for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

About this section
Sources:
34MalaCards
See all sources

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

34
Bone

Animal Models for Scaphocephaly, Maxillary Retrusion, and Mental Retardation or affiliated genes

About this section

Publications for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

About this section

Variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

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

65
id Symbol AA change Variation ID SNP ID
1FGFR2p.Lys526GluVAR_023788

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

1
id Gene Name Type Significance SNP ID Assembly Location
1FGFR2NM_000141.4(FGFR2): c.1576A> G (p.Lys526Glu)single nucleotide variantPathogenicrs121918507GRCh37Chr 10, 123258105: 123258105

Expression for genes affiliated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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

Pathways for genes affiliated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation

About this section

Compounds for genes affiliated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation

About this section

GO Terms for genes affiliated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation

About this section

Products for genes affiliated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet