FSPC
MCID: SCP007
MIFTS: 27
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Scaphocephaly, Maxillary Retrusion, and Mental Retardation (FSPC)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Scaphocephaly, Maxillary Retrusion, and Mental Retardation:
Characteristics:Orphanet epidemiological data:58
familial scaphocephaly syndrome, mcgillivray type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Bone diseases Neuronal diseases Mental diseases
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Familial scaphocephaly syndrome: An autosomal dominant craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability. Scaphocephaly is the most common of the craniosynostosis conditions and is characterized by a long, narrow head. It is due to premature fusion of the sagittal suture or from external deformation.
MalaCards based summary : Scaphocephaly, Maxillary Retrusion, and Mental Retardation, also known as scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome, is related to familial scaphocephaly syndrome and mcgillivray syndrome. An important gene associated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation is FGFR2 (Fibroblast Growth Factor Receptor 2). Affiliated tissues include bone, skin and testes, and related phenotypes are hypertelorism and macrocephaly
More information from OMIM:
609579
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Diseases related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:58 31 (show all 15)
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MalaCards organs/tissues related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:40
Bone,
Skin,
Testes
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Articles related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:
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ClinVar genetic disease variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation:6
UniProtKB/Swiss-Prot genetic disease variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation:73
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Search
GEO
for disease gene expression data for Scaphocephaly, Maxillary Retrusion, and Mental Retardation.
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