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Saethre-Chotzen Syndrome
Thursday, 07 October 2004
Thursday, 07 October 2004
Acrocephalosyndactyly Type III, Acrocephaly


Saethre-Chotzen syndrome (SCS) is a rare, inherited, genetic disorder that affects the face and the skull. SCS causes the bones in the skull to fuse prematurely, a condition called craniosynostosis, which leads to facial asymmetry and a pointed appearance. Structural abnormalities of the eyes, ears, fingers, and toes may also exist. In some cases, SCS can cause developmental delay and mental retardation, but in most cases intelligence is normal.


Saethre-Chotzen syndrome has an estimated incidence of one in every 25,000 to 50,000 live births. Males and females are equally affected. Individuals with SCS usually have a parent who is also affected. There is no known racial predilection.

Signs and Symptoms

There is considerable variability in the symptoms that children with SCS may display. In general, some or all of the following may be found:  Head/Face: Facial asymmetry due to the premature and abnormal fusion of facial bones (craniosynostosis). A small head shape is called brachycephaly, a tall and pointed head shape is known as acrocephaly. A low hairline, beaked nose, cleft palate, high-arched palate, underdeveloped jaw, and abnormal teeth are also common.  Eyes/Ears: The eyelids may droop, the eyes may be widely spaced apart, and one eye may move differently from the other (eye deviation or strabismus). Vision may also be affected. The size of the ears may be small, low set, or abnormally formed. In a few cases, hearing may be affected.  Fingers/Toes: The fingers and toes may have some webbing between them (syndactyly), and they may be curved inward (clinodactyly) or short (brachydactyly).  Growth and Intelligence: Some individuals with SCS may have a short stature and developmental delay. SCS usually doesn’t affect intelligence, but may cause mild to moderate mental retardation in some cases.  Other features: In some cases, individuals with SCS can have heart problems or problems with bones in their back.

Possible Causes

Saethre-Chotzen syndrome is caused by alterations in DNA located on chromosome 7 that are transmitted genetically. The mode of genetic transmission is known as autosomal dominant. This mode requires only one defective copy of the gene responsible for SCS to be passed from parent to child for disease to occur. There are normally two copies of each gene present in the body. The gene responsible for SCS is called TWIST1 and deletions (loss of genetic material), mutations (alterations in genetic material), or structural alterations in chromosome 7 (ring formation) may each lead to the abnormal bone growth and fusion in SCS. Genetic counseling is important because it is the nature of the genetic alteration that determines the full extent of disease.


Saethre-Chotzen syndrome is diagnosed based on recognition of the distinct physical features in the head, face, eyes, ears, and hands. A thorough physical examination is crucial, while imaging studies such as skeletal X-rays and magnetic resonance imaging (MRI) can be used to confirm specific bony abnormalities. Eliciting a family history of facial asymmetry or other related problems is also important. Confirmation of the diagnosis can be obtained through blood tests screening for the specific genetic mutations responsible for SCS.


There is unfortunately no cure for Saethre-Chotzen syndrome. Treatment should be focused on supportive care and aggressive early management of craniosynostosis-related problems. Assembling a multidisciplinary team of craniofacial surgeons, dentists, eye doctors, and orthopedists is essential. Individuals with SCS will usually require a cranioplasty procedure within the first year of life. This surgical procedure involves the remodeling and reshaping of the abnormally shaped skull and may help lower the risk of developing increased pressure within the skull. Plastic or reconstructive surgery will likely be needed to repair the nose or eyelids if these structures are affected, or to help repair webbing of the hands and feet. Regular eye exams with an ophthalmologist are important to monitor for increased brain pressure, an audiologist can check the ears for any possible hearing loss; and a speech therapist can help with speech problems. An orthodontist can also repair the teeth while an orthopedist will help care for other skeletal deformities.


Individuals with Saethre-Chotzen syndrome generally have a normal lifespan and require psychosocial counseling as they progress towards adulthood.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


Children's Craniofacial Association
This association can help identify educational, medical, and financial resources for families affected by craniofacial syndromes, in addition to providing support groups for families.

The National Craniofacial Association: Saethre-Chotzen Syndrome
This website has general information on SCS and has a list of additional weblinks that may help families.

AboutFace USA
This group provides general information and support for families, and may help identify useful resources.

Headlines, Craniofacial Support
This website provides information on craniofacial syndromes and can provide booketls on SCS specifically. They also provide a support network for families, weblinks, and general resources.

Alliance of Genetic Support Groups
Information on SCS can be requested. This site also has many support groups and informational resources for families affected by genetic disorders in general. They are also an advocacy group.

MUMS: National Parent to Parent Organization
This organization can help find and connect you to other families who also have children with Saethre-Chotzen Syndrome. Children with Facial Difference: A Parent's Guide. Written by Hope Charkins, MSW. Published by Woodbine House, 1996.

Google Search for Saethre-Chotzen Syndrome

References and Sources

1. De Heer, IM et al (2004) Deletion of the TWIST gene in a large five-generation family. Clin Genet. 65(5):396-9. 2. OMIM: 3.