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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MalaCards based summary: Scaphocephaly, Maxillary Retrusion, and Mental Retardation, is also known as scaphocephaly - macrocephaly - maxillary retrusion - intellectual disability, and has symptoms including macrocephaly/macrocrania/megalocephaly/megacephaly, high forehead and hypertelorism. 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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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Scaphocephaly, Maxillary Retrusion, and Mental Retardation, Aliases & Descriptions:

Name: Scaphocephaly, Maxillary Retrusion, and Mental Retardation 46
Scaphocephaly - Macrocephaly - Maxillary Retrusion - Intellectual Disability 48
 
Familial Scaphocephaly Syndrome, Mcgillivray Type 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
scaphocephaly - macrocephaly - maxillary retrusion - intellectual disability:
Inheritance: Autosomal dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


External Ids:

OMIM46 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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Clinical features from OMIM:

609579

Symptoms:

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

HPO human phenotypes related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

(show all 14)
id Description Frequency HPO Source Accession
1 macrocephaly hallmark (90%) HP:0000256
2 hypertelorism hallmark (90%) HP:0000316
3 high forehead hallmark (90%) HP:0000348
4 abnormality of the palate typical (50%) HP:0000174
5 dolichocephaly typical (50%) HP:0000268
6 malar flattening typical (50%) HP:0000272
7 dental malocclusion typical (50%) HP:0000689
8 cognitive impairment typical (50%) HP:0100543
9 trigonocephaly occasional (7.5%) HP:0000243
10 mandibular prognathia occasional (7.5%) HP:0000303
11 upslanted palpebral fissure occasional (7.5%) HP:0000582
12 toe syndactyly occasional (7.5%) HP:0001770
13 preaxial foot polydactyly occasional (7.5%) HP:0001841
14 ventriculomegaly occasional (7.5%) HP:0002119

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

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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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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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Variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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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:

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet