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

United Arab Emirates

Al Talabani et al. (1998) studied the pattern of major congenital malformations in 24,233 consecutive live and stillbirth in Corniche hospital between January 1992 to January 1995. A total of 401 babies (16.6/1,000), including 289 Arabs, were seen with major malformation. In their study, Al Talabani et al. (1998) observed one case of Saethre-Chotzen syndrome in a family from the United Arab Emirates. Recurrence was reported in other members of the family. Al Talabani et al. (1998) concluded that this study is very close to representing the true incidence of congenital abnormalities in the whole United Arab Emirates, as this study included over 98% of deliveries in Abu Dhabi, the capital of United Arab Emirates.

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