Saethre-Chotzen Syndrome (SCS)

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OMIM 57 101400 Disease Ontology 12 DOID:14768 MeSH 44 D000168 NCIt 50 C75034 SNOMED-CT 68 390726000 390746005 83015004

MedGen 42 C0175699 C1863370 C1863371 KEGG 37 H01991 SNOMED-CT via HPO 69 263681008 204878001 63567004 87979003 13649004 48069004 82779003 194021007 22006008 15253005 103276001 15188001 343087000 95828007 95515009 44057004 60700002 249322008 128602000 22066006 11934000 204113001 246920008 413728006 44593008 59026006 387742006 76976005 43476002 205308004 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 21850008 254024005 57219006 13213009 32113001 122480009 415692008 37796009 61152003 271719001 111266001 64217002 248372000 11240000 29307005 33313004 254838004 249710008 61960001 237836003 109417006 249769001 268251006 34048007 35045004 73430006 35580009 249773003 more UMLS 73 C0175699 C1275079

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 jackson-weiss syndrome and parietal foramina. 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 Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and heart, and related phenotypes are malar flattening and hypertelorism

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.

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.

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.

Wikipedia : ⁷⁶ Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital... more...

GeneReviews: NBK1189

Clinical features from OMIM:

101400

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	shRNA abundance <= 50%	GR00343-S	9.32	ALPP BGLAP CASP2 CASP8 FGFR2 FGFR3

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