Saethre–Chotzen syndrome



What is Saethre-Chotzen syndrome?

Saethre-Chotzen syndrome is a genetic condition characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

How common is Saethre-Chotzen syndrome?

Saethre-Chotzen syndrome is uncommon. This condition has an estimated prevalence of 1 in 25,000 to 50,000 people. Please discuss with your doctor for further information.


What are the symptoms of Saethre-Chotzen syndrome?

The symptoms that will be common are:

  • Fusion of the skull bones resulting in a misshapen head and face
  • Distinct deformities of the digits and toes
  • Facial asymmetry
  • Triangular shaped head

Due to the fusion of the skull bones, there is very less space left in the brain which results in increased intracranial pressure. Some of the other symptoms of Saethre-

Chotzen Syndrome are:

  • Broad forehead
  • Ptosis
  • Beaked nose
  • Deviated nasal septum
  • Abnormal protrusion of the lower jaw
  • Widely spaced eyes
  • Strabismus
  • Abnormal narrowing of tear ducts resulting in reduced tearing and predisposition to frequent eye infections

Saethre-Chotzen syndrome also causes certain musculoskeletal abnormalities with webbing of soft tissues of some digits, especially the second and third toes. The affected child may also have abnormally short fingers and toes, abnormal bending of the fingers, and deviated great toe.

Undescended testicles, renal and cardial defects are also seen in some of the cases of Saethre-Chotzen syndrome.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.


What causes Saethre-Chotzen syndrome?

The main cause of Saethre-Chotzen syndrome is a defective TWIST1 gene. This gene is a part of chromosome 7. This is an autosomal dominant condition meaning that a single copy of the defective gene is enough for a baby to get Saethre-Chotzen syndrome.

Males and females both are at equal risk for developing Saethre-Chotzen syndrome. In some cases, Saethre-Chotzen syndrome may also be caused due to spontaneous mutation occuring in the sperm or the egg resulting in the baby developing Saethre-Chotzen syndrome.

Risk factors

What increases my risk for Saethre-Chotzen syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Saethre-Chotzen syndrome diagnosed?

An ultrasound of the mother before delivery may be a clear give away that the child is suffering from Saethre-Chotzen syndrome. Apart from this, after the child is born, the specific facial features are good enough to confirm the diagnosis. Additionally genetic testing may be done to identify the defect in the TWIST1 gene which will definitively confirm the diagnosis of Saethre-Chotzen syndrome.

How is Saethre-Chotzen syndrome treated?

The treatment of Saethre-Chotzen syndrome is primarily aimed at correcting those deformities first that are medically important and will allow the patient to function in a more normal way.

This requires a multidisciplinary approach towards treatment and requires specialists from various medical specialties such as pediatrics, general surgery, neurosurgery, ophthalmology, orthopedics, ENT, and neurologists.

Surgery is essential to treat the fused skull bones so as to create more space within the brain and reduce the intracranial pressure along with bringing the head and face in shape. Surgery may also be required to correct various musculoskeletal manifestations of Saethre-Chotzen syndrome. The extent of the surgical procedure will depend on the extent and location of the deformity.

Close evaluations by ophthalmologist is also quite essential to treat ptosis and other ocular abnormalities caused by Saethre-Chotzen syndrome. In case of hearing deficits, consultation with an audiologist is also very important to correct the deficit.

In cases of intellectual disabilities, speech therapy and special education specialists may be required to make the patient as independent as possible despite Saethre-Chotzen syndrome.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Saethre-Chotzen syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.