Saethre-Chotzen Syndrome

Alternative Names

  • SCS
  • Acrocephalosyndactyly, Type III
  • ACS3
  • ACS III
  • Chotzen Syndrome
  • Acrocephaly, Skull Asymmetry, and Mild Syndactyly
  • Saethre-Chotzen Syndrome with Eyelid Anomalies
  • Blepharophimosis, Epicanthus Inversus, and Ptosis 3
  • BPES3
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

101400

Mode of Inheritance

Autosomal dominant

Gene Map Locus

7p21.1,10q26.13

Description

Saethre-Chotzen syndrome belongs to a group of rare genetic disorders known as acrocephalosyndactyly disorders and is one of the most common forms of craniosynostosis (premature fusion of cranial sutures) in humans. Clinical features of Saethre-Chotzen syndrome include acrocephalosyndactyly most commonly affecting the coronal suture, dysmorphic facial features (e.g., facial asymmetry, hypertelorism and maxillary hypoplasia), low frontal hairline, brachydactyly and cutaneous syndactyly. Additional physical findings can include tear duct stenosis, vertebral fusion, and mild short stature.

Saethre-Chotzen syndrome is inherited as an autosomal dominant trait with a high penetrance and variable expression. Although point mutations or deletions in TWIST1 gene is known to be associated with Saethre-Chotzen syndrome, some patients with overlapping phenotypes have been found with mutations in FGFR3 gene and FGFR2 gene.

 

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Aziza et al (2011) conducted a hospital-based descriptive study between 2002 to 2009 at King Faisal Specialist Hospital and Research Center and found that out of 447 cranofacial patients, eight had Saethre-Chotzen syndrome.

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