Details of Disease

General Information of Disease (ID: DIS3A437)

• Disease Name: Saethre-Chotzen syndrome
• Synonyms: acrocephalo-syndactyly, type 3; blepharophimosis, epicanthus inversus, and ptosis 3, formerly; Saethre-Chotzen syndrome with eyelid anomalies; acrocephalosyndactyly type III; acrocephalosyndactyly, type 3; acrocephaly, skull asymmetry, and mild syndactyly; blepharophimosis,epicanthus inversus, and ptosis 3 (formerly); Chotzen syndrome; ACS 3; blepharophimosis, epicanthus inversus, and ptosis 3; Saethre Chotzen Syndrome; Saethre-Chotzen syndrome; ACS3; type III Acrocephalosyndactyly; Saethre-Chotzen syndrome with or without eyelid anomalies; acrocephalosyndactyly type 3; SCS
• Definition: Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163)
• Disease Hierarchy:
  DISFIB1L: Acrocephalosyndactyly
  DIS3A437: Saethre-Chotzen syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0007042
  MESH ID: D000168
  UMLS CUI: C0175699
  OMIM ID: 101400
  MedGen ID: 64221
  Orphanet ID: 794
  SNOMED CT ID: 83015004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TWIST1	OTB3H60O	Definitive	Autosomal dominant	[1]
EFNB1	OT7JJW8P	Strong	Genetic Variation	[5]
FGFR2	OTLOPACK	Strong	Autosomal dominant	[2]
HAND2	OTCXYW4Y	Strong	Biomarker	[6]
NEUROD1	OTZQ7QJ2	Strong	Biomarker	[7]
TCF12	OTZVONNU	Strong	Biomarker	[8]

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FGFR2	TTGJVQM	Strong	Autosomal dominant	[2]
FGFR2	TTGJVQM	Strong	Biomarker	[3]
FGFR3	TTST7KB	Strong	Genetic Variation	[4]
TWIST1	TTX1MY7	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [2] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [3] Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
• [4] Clinical and genetic characteristics of craniosynostosis in Hungary.Am J Med Genet A. 2015 Dec;167A(12):2985-91. doi: 10.1002/ajmg.a.37298. Epub 2015 Aug 20.
• [5] Nonsyndromic craniosynostosis: novel coding variants.Pediatr Res. 2019 Mar;85(4):463-468. doi: 10.1038/s41390-019-0274-2. Epub 2019 Jan 14.
• [6] Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities.Nat Genet. 2005 Apr;37(4):373-81. doi: 10.1038/ng1525. Epub 2005 Feb 27.
• [7] Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9.Congenit Anom (Kyoto). 2018 Jan;58(1):33-35. doi: 10.1111/cga.12216. Epub 2017 May 2.
• [8] Deviating dental arch morphology in mild coronal craniosynostosis syndromes.Clin Oral Investig. 2019 Jul;23(7):2995-3003. doi: 10.1007/s00784-018-2710-9. Epub 2018 Nov 3.