HomeSyndromes Saethre-Chotzen

Saethre-Chotzen in Dallas, TX

Finding out your child has been diagnosed with Saethre-Chotzen syndrome can be stressful; however, one way to ease your worry is to seek care from the International Craniofacial Institute in Dallas, Texas.

What Is Saethre-Chotzen Syndrome?

Saethre-Chotzen syndrome (SCS) is a condition characterized by premature closure of one or more of the sutures between the bone plates that make up the skull. In addition to having abnormalities of the skull, children affected by SCS usually have other abnormalities such as webbing between the fingers, drooping eyelids, small ears, a low hairline, and facial asymmetry.

How Do People Inherit Saethre-Chotzen Syndrome?

SCS is inherited as an autosomal dominant mutation. This means that both boys and girls are equally likely to be affected. It also means that only one copy of the mutation needs to be inherited for the condition to manifest. In general, a parent affected by SCS has a 50% chance of producing a child with SCS. In most cases, however, the mutation occurs de novo and affects a child born to two unaffected parents.

How Common Is Saethre-Chotzen Syndrome?

SCS is very rare, affecting only one out of every 25,000 to 50,000 births.

Saethre-Chotzen Syndrome Characteristics

Most parents notice the child has a lopsided or tall, flat forehead. The droopy eyelids, crooked nose, low hairline, and small ears are usually not noticed by the parents until they are pointed out by a medical professional. Around one-third of children with SCS have webbed fingers. Most children with SCS have normal brain development and intelligence. Doctors will usually perform imaging tests and genetic tests before finally diagnosing SCS.

What Is the Cause of Saethre-Chotzen Syndrome?

SCS is caused by an inherited mutation in a gene called TWIST1. TWIST1 normally plays an important role in the formation of the head and limbs during fetal development. When TWIST1 is mutated, it causes the formation of the head and limbs to become disorganized, and normal developmental events don’t occur at the normal times. This disorganization can lead to the webbing between the fingers not regressing before birth and also affects how the parts of the head fit together.

Saethre-Chotzen Syndrome Treatment

The premature closure of the bony plates of the skull needs to be surgically corrected around age nine months. If this condition is not corrected early, the head and skull will become permanently deformed. Even more important, if the condition is not corrected the brain may have insufficient space to grow, which can cause damage to the brain with resulting sensory and cognitive deficits.

Normally, children are born with the bone plates of the skull un-fused. This allows the bone plates to move inwards during birth, and then allows the skull to expand after birth as the brain grows rapidly during early infancy and childhood. The bones of the skull normally fuse together at scheduled times, around three to nine months of age for the forehead and around two to three years for the rest of the skull. In SCS, the bones along the top of the head running from ear to ear tend to fuse very early in infancy.

Why Choose International Craniofacial Institute?

The International Craniofacial Institute in Dallas, Texas is a leading institute for the accurate diagnosis and quality treatment of Saethre-Chotzen syndrome and other syndromes and conditions. Our institute was founded in 1971 by Dr. Kenneth Salyer, a surgeon. Today, the institute is organized and led by the director, Dr. David G. Genecov. Dr. Genecov operates the International Craniofacial Institute as one of the nation’s most prestigious centers for palate repair, craniofacial repair, and cleft lip repair.

At our institute, we train doctors and surgeons from all over the world. In addition, our doctors have treated more than 17000 patients. These patients come from the United States, as well as other countries.

To alter and correct craniofacial abnormalities and difficulties, a high skill set is demanded, and we have that here. Our doctors, surgeons and the rest of the staff are extremely knowledgeable and always up to date on the newest methods of diagnosis and treatment. Among all of our employees, we have decades of experience working with different syndromes, including Saethre-Chotzen syndrome.

If you have a child or another family member who is suffering from a genetic syndrome or has a cleft lip, cleft palate, or craniofacial complication, the staff at the International Craniofacial Institute can help. Contact us today to talk with the doctors and staff about your options and how we can help.

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