Saethre-Chotzen Syndrome

Clinical Characteristics
Ocular Features: 

The lids are often ptotic and asymmetrically so in keeping with the skull asymmetry.  Strabismus is common.  Optic atrophy, downward slanting lid fissures, epicanthal folds, and dacryostenosis have also been reported.

Systemic Features: 

The skull is acrocephalic and asymmetrical.  The frontal hairline is low.  The external ear and especially the crus of the ear are malformed and the latter is sometimes considered a valuable diagnostic sign.  There is frequently mild soft tissue syndactyly of the third, fourth and fifth toes, and the distal phalanges of the hallux may be bifid.  Syndactyly of the fingers is sometimes present as well.  Clefting of the soft and hard palates is commonly present and a few patients have had joint contractures.  Hearing loss of all types has been reported.  Mental development seems to be normal.  An increased risk of breast cancer has been found among Swedish patients.

SCS is considered to be one of the more common types of syndromic craniosynostosis.


Saethre-Chotzen syndrome is caused by mutations in the TWIST1 (10q26) and possibly FGFR2 genes suggesting genetic heterogeneity.  There is also a great deal of clinical heterogeneity.  This syndrome is sometimes confused with Gorlin-Chaudhry-Moss syndrome (233500).  Pedigrees are consistent with autosomal dominant inheritance.

Treatment Options: 

There is no known treatment except for cranioplasty and repair of palate clefting.

Article Title: 


Sahlin P, Windh P, Lauritzen C, Emanuelsson M, Gronberg H, Stenman G. Women with Saethre-Chotzen syndrome are at increased risk of breast cancer. Genes Chromosomes Cancer. 2007 Jul;46(7):656-60.

PubMedID: 17437280

Kress W, Schropp C, Lieb G, Petersen B, B?osse-Ratzka M, Kunz J, Reinhart E, Sch?SSfer WD, Sold J, Hoppe F, Pahnke J, Trusen A, Sorensen N, Krauss J, Collmann H. Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. Eur J Hum Genet. 2006 Jan;14(1):39-48.

PubMedID: 16251895

Preis S, Kaewel EV, Majewski F. Gorlin-Chaudhry-Moss or Saethre-Chotzen syndrome? Clin Genet. 1995 May;47(5):267-9.

PubMedID: 7554354