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Saethre-Chotzen Syndrome.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2003 May 16 [updated 2012 Jun 14].



Classic Saethre-Chotzen syndrome (SCS) is characterized by coronal synostosis (unilateral or bilateral), facial asymmetry (particularly in individuals with unilateral coronal synostosis), ptosis, and characteristic appearance of the ear (small pinna with a prominent crus). Syndactyly of digits two and three of the hand is variably present. Intelligence is usually normal, although those with large genomic deletions are more likely to have developmental delays. Less common manifestations of SCS include short stature, parietal foramina, vertebral fusions, radioulnar synostosis, cleft palate, maxillary hypoplasia, ocular hypertelorism, hallux valgus, duplicated distal hallucal phalanx, and congenital heart malformations.


The diagnosis of SCS is primarily based on clinical findings. TWIST1 is the only gene in which mutations are known to cause SCS. Occasionally, affected individuals have a chromosome translocation involving 7p21 or ring chromosome 7.


Treatment of manifestations: Cranioplasty in the first year of life to prevent progressive facial asymmetry in those with asymmetric coronal fusion and to prevent increased intracranial pressure (ICP) in those with multiple sutural synostosis; midfacial surgery as needed for dental malocclusion, swallowing difficulties, and respiratory problems. If a cleft palate is present, surgical repair usually follows cranioplasty. As needed: orthodontic treatment and/or orthognathic surgery at the completion of facial growth; developmental intervention; routine treatment of hearing loss; ophthalmologic evaluation and, if ptosis is present, intervention to prevent amblyopia, with surgical repair during early childhood as needed. Prevention of secondary complications: Attention to possible cervical vertebral instability secondary to vertebral anomalies. Surveillance: Periodic ophthalmologic evaluation for chronic papilledema, strabismus, or amblyopia, or brain imaging in later life for evidence of increased intracranial pressure (ICP); routine re-evaluation for facial asymmetry, psychomotor development, and hearing loss.


SCS is inherited in an autosomal dominant manner. Many individuals diagnosed with SCS have an affected parent; the proportion of cases caused by a de novo mutation is unknown. Each child of an individual with SCS has a 50% chance of inheriting the mutation. Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutation has been identified in the family; however, requests for prenatal testing for conditions such as SCS are not common.

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