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CFSMR
MCID: CRN212
MIFTS: 34
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Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome (CFSMR)
Categories:
Genetic diseases, Rare diseases
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MalaCards integrated aliases for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome:
Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
variable phenotype patients from old order amish community and turkey have been reported onset prenatally or at birth HPO:33
craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome:
Onset and clinical course phenotypic variability Inheritance autosomal recessive inheritance Classifications: |
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UniProtKB/Swiss-Prot
:
76
Craniofacial dysmorphism, skeletal anomalies and mental retardation syndrome: A disorder characterized by craniofacial and skeletal anomalies, associated with mental retardation. Typical craniofacial dysmorphism include brachycephaly, highly arched bushy eyebrows, synophrys, long eyelashes, low-set ears, microdontism of primary teeth, and generalized gingival hyperplasia, whereas Sprengel deformity of scapula, fusion of spine, rib abnormities, pectus excavatum, and pes planus represent skeletal anomalies.
MalaCards based summary : Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome, also known as cerebrofaciothoracic dysplasia, is related to zttk syndrome and phace syndrome. An important gene associated with Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome is TMCO1 (Transmembrane And Coiled-Coil Domains 1). Affiliated tissues include brain, bone and kidney, and related phenotypes are hypertelorism and short neck Genetics Home Reference : 26 Cerebro-facio-thoracic dysplasia is a rare condition characterized by abnormal development (dysplasia) of the brain (cerebro) and structures in the face (facio) and torso (thoracic). The problems with development lead to the key features of cerebro-facio-thoracic dysplasia, which include severe intellectual disability, distinctive facial features, and abnormalities of the ribs and spinal bones (vertebrae).
Description from OMIM:
213980
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Diseases related to Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 19)
Graphical network of the top 20 diseases related to Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome:
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Human phenotypes related to Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome:33 (show top 50) (show all 79)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:213980 |
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Cochrane evidence based reviews: musculoskeletal abnormalities |
MalaCards organs/tissues related to Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome:42
Brain,
Bone,
Kidney,
Eye
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Articles related to Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome:
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Genes related to Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome:6
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Search
GEO
for disease gene expression data for Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome.
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