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SCS
MCID: STH001
MIFTS: 67
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Saethre-Chotzen Syndrome (SCS)
Categories:
Bone diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Saethre-Chotzen Syndrome:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
few patients with mild to moderate mental retardation variable expressivity incidence of 1 in 25,000 to 1 in 50,000 newborns phenotypic overlap with muenke syndrome due to a mutation in the fgfr3 gene (p250r, ) HPO:32
saethre-chotzen syndrome:
Onset and clinical course variable expressivity Inheritance autosomal dominant inheritance GeneReviews:24
Penetrance
Precise penetrance data are not available; however, wide phenotypic variability and incomplete penetrance are well described [dollfus et al 2002, de heer et al 2005]...
Classifications: |
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NIH Rare Diseases
:
53
Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape and symmetry of the head and face. Other features may include webbing of certain fingers or toes (syndactyly), small or unusually shaped ears, short stature, and abnormalities of the bones in the spine (the vertebrae). The signs and symptoms of Saethre-Chotzen syndrome vary widely, even among affected individuals in the same family. Mutations (variants) in the TWIST1 gene cause most cases of Saethre-Chotzen syndrome. The condition is inherited in an autosomal dominant pattern. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. Treatment is aimed at addressing the symptoms found in each individual and may require the coordinated efforts of a team of specialists. Surgery is often needed to prevent or correct early closure of the cranial sutures and correct certain craniofacial abnormalities, syndactyly and/or skeletal defects.
MalaCards based summary : Saethre-Chotzen Syndrome, also known as acs3, is related to craniosynostosis and jackson-weiss syndrome. An important gene associated with Saethre-Chotzen Syndrome is TWIST1 (Twist Family BHLH Transcription Factor 1), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Pathways in cancer. The drugs Ticagrelor and Purinergic P2 Receptor Antagonists have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and heart, and related phenotypes are malar flattening and hypertelorism Disease Ontology : 12 An acrocephalosyndactylia that has material basis in a genetic mutation in the TWIST1 gene which results in premature fusion located in skull. Genetics Home Reference : 25 Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. OMIM : 57 Saethre-Chotzen syndrome is characterized by craniosynostosis, facial dysmorphism, and hand and foot abnormalities. Coronal synostosis resulting in brachycephaly is the most frequent cranial abnormality observed, and the most common facial features are asymmetry, hypertelorism, and maxillary hypoplasia. Other features include high forehead, low frontal hairline, late-closing fontanel, strabismus, ptosis, lacrimal duct stenosis, deviated nasal septum, small low-set posteriorly rotated ears with prominent crus, and hearing loss. The limb anomalies consist of radioulnar synostosis, brachydactyly, cutaneous syndactyly, and hallux valgus. Patients also exhibit short stature and vertebral fusion, and mild to moderate mental retardation has been noted in some cases. Inter- and intrafamilial variability is significant, with some patients having fusion of other sutures, or no apparent craniosynostosis but abnormal skull morphology. The degree of syndactyly is also variable, and digital abnormalities can be absent (Jabs, 2008). (101400) UniProtKB/Swiss-Prot : 75 Saethre-Chotzen syndrome: A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly. Wikipedia : 76 Saethre�??Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital... more...
GeneReviews:
NBK1189
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:101400Human phenotypes related to Saethre-Chotzen Syndrome:32 (show top 50) (show all 73)
GenomeRNAi Phenotypes related to Saethre-Chotzen Syndrome according to GeneCards Suite gene sharing:26
MGI Mouse Phenotypes related to Saethre-Chotzen Syndrome:46 (show all 19)
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Drugs for Saethre-Chotzen Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:
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MalaCards organs/tissues related to Saethre-Chotzen Syndrome:41
Bone,
Eye,
Heart,
Lung,
Brain,
Spinal Cord,
Bone Marrow
The Foundational Model of Anatomy Ontology organs/tissues related to Saethre-Chotzen Syndrome:19
Skull
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Articles related to Saethre-Chotzen Syndrome:(show top 50) (show all 103)
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Genes related to Saethre-Chotzen Syndrome (3 elite genes):(show all 16) - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Saethre-Chotzen Syndrome:75
ClinVar genetic disease variations for Saethre-Chotzen Syndrome:6 (show top 50) (show all 192)
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Search
GEO
for disease gene expression data for Saethre-Chotzen Syndrome.
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Pathways related to Saethre-Chotzen Syndrome according to GeneCards Suite gene sharing:(show all 27)
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Biological processes related to Saethre-Chotzen Syndrome according to GeneCards Suite gene sharing:(show all 45)
Molecular functions related to Saethre-Chotzen Syndrome according to GeneCards Suite gene sharing:
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