MCID: SCP007
MIFTS: 18

Scaphocephaly, Maxillary Retrusion, and Mental Retardation malady

Bone diseases, Fetal diseases, Neuronal diseases, Genetic diseases categories

Summaries for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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46OMIM, 32MalaCards
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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 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:46 609579

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

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46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 46
scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit 48
familial scaphocephaly syndrome, mcgillivray type 48


External Ids:

OMIM46 609579
ICD10 via Orphanet26 Q87.0

Related Diseases for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Clinical Features for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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46OMIM, 48Orphanet
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Clinical features from OMIM:

609579

Symptoms:

48 (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

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5CenterWatch, 41NIH 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

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Anatomical Context for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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32MalaCards
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MalaCards organs/tissues related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

32
Bone

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

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Publications for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Genetic Variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

62
id Symbol AA change Variation ID SNP ID
1FGFR2p.Lys526GluVAR_023788

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

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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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet