MCID: SCP007
MIFTS: 17

Scaphocephaly, Maxillary Retrusion, and Mental Retardation malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases, Neuronal diseases, Mental diseases categories
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Summaries for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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47OMIM, 33MalaCards
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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:47 609579

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

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



Characteristics (Orphanet epidemiological data):

49
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 47
scaphocephaly - macrocephaly - maxillary retrusion - intellectual disability 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

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Symptoms for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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47OMIM, 49Orphanet
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Clinical features from OMIM:

609579

Symptoms:

49 (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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

33
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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Variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

64
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

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2BioGPS, 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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet