MCID: SCP007
MIFTS: 12

Scaphocephaly, Maxillary Retrusion, and Mental Retardation malady

Bone, Fetal, Neuronal, Genetic categories

Summaries for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Sources:
47OMIM, 33MalaCards
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MalaCards: Scaphocephaly, Maxillary Retrusion, and Mental Retardation, is also known as scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, hypertelorism and intellectual deficit/mental/psychomotor retardation/learning disability. An important gene associated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation is FGFR2 (fibroblast growth factor receptor 2).

Description from OMIM:47 609579

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

Sources:
47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal, Genetic
Anatomical: Bone, Neuronal


Characteristics (Orphanet epidemiological data):

49
scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

scaphocephaly, maxillary retrusion, and mental retardation 47
scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit 49
familial scaphocephaly syndrome, mcgillivray type 49


External Ids:

OMIM47 609579
ICD10 via Orphanet26 Q87.0

Related Diseases for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Clinical Features for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

609579

Symptoms:

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

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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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

Anatomical Context for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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

Sources:
28inGenious Targeting Laboratory
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Publications for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Genetic Variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

63
id Symbol AA change Variation SNP ID
1FGFR2p.Lys526GluVAR_023788

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet