SCS
MCID: STH001
MIFTS: 67
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Saethre-Chotzen Syndrome (SCS)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Saethre-Chotzen Syndrome:
Characteristics:Orphanet epidemiological data:58
saethre-chotzen syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy; OMIM:56
Miscellaneous:
variable expressivity few patients with mild to moderate mental retardation 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, )
Inheritance:
autosomal dominant HPO:31
saethre-chotzen syndrome:
Inheritance autosomal dominant inheritance Onset and clinical course variable expressivity 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:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Eye diseases Bone diseases
ICD10:
33
Orphanet: 58
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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.
Most people with Saethre-Chotzen syndrome have prematurely fused skull bones along the coronal suture, the growth line that goes over the head from ear to ear. Other parts of the skull may be malformed as well. These changes can result in an abnormally shaped head, a high forehead, a low frontal hairline, droopy eyelids (ptosis), widely spaced eyes, and a broad nasal bridge. One side of the face may appear noticeably different from the other (facial asymmetry). Most people with Saethre-Chotzen syndrome also have small, rounded ears.
The signs and symptoms of Saethre-Chotzen syndrome vary widely, even among affected individuals in the same family. This condition can cause mild changes in the hands and feet, such as partial fusion of the skin between the second and third fingers on each hand and a broad or duplicated first (big) toe. Delayed development and learning difficulties have been reported, although most people with this condition are of normal intelligence. Less common signs and symptoms of Saethre-Chotzen syndrome include short stature, abnormalities of the bones of the spine (the vertebra), hearing loss, and heart defects.
Robinow-Sorauf syndrome is a condition with features similar to those of Saethre-Chotzen syndrome, including craniosynostosis and broad or duplicated great toes. It was once considered a separate disorder, but was found to result from mutations in the same gene and is now thought to be a variant of Saethre-Chotzen syndrome.
MalaCards based summary : Saethre-Chotzen Syndrome, also known as acs3, is related to chromosome 2q35 duplication syndrome and hypertelorism. An important gene associated with Saethre-Chotzen Syndrome is TWIST1 (Twist Family BHLH Transcription Factor 1), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Pathways in cancer. The drugs Everolimus and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include skull, bone and eye, and related phenotypes are clinodactyly of the 5th finger and facial asymmetry 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. NIH Rare Diseases : 52 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. OMIM : 56 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) KEGG : 36 Saethre-Chotzen syndrome (SCS) is an autosomal dominant disease characterized by craniosynostosis, ptosis, and limb and external ear abnormalities. Mutations in the TWIST gene have been extensively reported in SCS. In addition, mutations in FGFR2 was also detected. UniProtKB/Swiss-Prot : 73 Saethre-Chotzen syndrome: A craniosynostosis syndrome characterized by coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, hypertelorism, broad halluces, and clinodactyly. Wikipedia : 74 Saethre-Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital... more...
GeneReviews:
NBK1189
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Human phenotypes related to Saethre-Chotzen Syndrome:58 31 (show top 50) (show all 77)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:101400GenomeRNAi Phenotypes related to Saethre-Chotzen Syndrome according to GeneCards Suite gene sharing:26 (show all 14)
MGI Mouse Phenotypes related to Saethre-Chotzen Syndrome:45 (show all 16)
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Drugs for Saethre-Chotzen Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 9)
Interventional clinical trials:
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The Foundational Model of Anatomy Ontology organs/tissues related to Saethre-Chotzen Syndrome:19
Skull
MalaCards organs/tissues related to Saethre-Chotzen Syndrome:40
Bone,
Eye,
Heart,
Skin,
Breast,
Brain,
Spinal Cord
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Articles related to Saethre-Chotzen Syndrome:(show top 50) (show all 307)
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ClinVar genetic disease variations for Saethre-Chotzen Syndrome:6 (show top 50) (show all 158)
UniProtKB/Swiss-Prot genetic disease variations for Saethre-Chotzen Syndrome:73
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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 25)
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Cellular components related to Saethre-Chotzen Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Saethre-Chotzen Syndrome according to GeneCards Suite gene sharing:(show all 41)
Molecular functions related to Saethre-Chotzen Syndrome according to GeneCards Suite gene sharing:(show all 13)
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