The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Atresia of the external auditory canal||50%|
|Convex nasal ridge||50%|
|External ear malformation||50%|
|Low anterior hairline||50%|
|Single transverse palmar crease||50%|
|Abnormal form of the vertebral bodies||7.5%|
|Conductive hearing impairment||7.5%|
|Increased intracranial pressure||7.5%|
|Low-set, posteriorly rotated ears||7.5%|
|Sensorineural hearing impairment||7.5%|
|Abnormality of cardiovascular system morphology||-|
|Abnormality of pelvic girdle bone morphology||-|
|Abnormality of the nasolacrimal system||-|
|Absent first metatarsal||-|
|Autosomal dominant inheritance||-|
|Cleft of chin||-|
|Clinodactyly of the 5th finger||-|
|Delayed cranial suture closure||-|
|Hypoplasia of the maxilla||-|
|Intellectual disability, moderate||-|
|Partial duplication of the distal phalanx of the 2nd finger||-|
|Partial duplication of the distal phalanx of the 3rd finger||-|
|Prominent crus of helix||-|
Mutations (variants) in the TWIST1 gene prevent one copy of the gene in each cell from making any functional protein. A shortage of the TWIST1 protein affects the development and maturation of cells in the skull, face, and limbs. These abnormalities underlie the signs and symptoms of Saethre-Chotzen syndrome, including the premature fusion of certain skull bones.
A small number of cases of Saethre-Chotzen syndrome have resulted from a structural chromosomal abnormality, such as a deletion or rearrangement of genetic material, in the region of chromosome 7 that contains the TWIST1 gene (7p21). When Saethre-Chotzen syndrome is caused by a chromosomal deletion instead of a mutation within the TWIST1 gene, affected children are much more likely to have intellectual disability, developmental delay, and learning difficulties.
At least one individual with Saethre-Chotzen syndrome has been described with a mutation (variant) in the FGFR2 gene.
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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I have have two sons affected by Saethre-Chotzen syndrome. One is mildly affected while the other has severe symptoms. Is my mildly-affected son at risk to have a child with severe symptoms similar to those seen in his brother? See answer