Opitz Syndrome

What is Opitz syndrome?

Opitz syndrome is a genetic condition characterized by widely spaced eyes and, in males, hypospadias (an abnormal opening of the urethra on the underside of the penis that can sometimes extend as a cleft through the scrotum). Opitz is also known as oculo-genito-laryngeal syndrome and BBB/G compound syndrome.

About a quarter of all children with this syndrome have a cleft lip or palate. The syndrome can also include other facial abnormalities, such as a small jaw, ear abnormalities and a prominent forehead. Respiratory problems and congenital heart defects are also more common in children with Opitz syndrome. 

The syndrome’s impact on intelligence varies and depends on the severity of associated brain malformations.

Causes

Opitz syndrome is caused by an inherited, genetic defect. There are two forms of inheritance for Opitz syndrome. One is autosomal dominant, meaning that the gene only has to be passed on from one parent for a child to have the disease. This form of Opitz syndrome is caused by a defect on the 22nd chromosome, however the specific gene remains unknown. Usually this form is classified as a part of a larger condition known as chromosome 22q11.2 deletion syndrome.

In other cases, researchers have determined that the syndrome is passed down in an X-linked fashion from one generation to another. This X-linked form of the syndrome primarily affects males and it’s caused by a mutation in the MID1 gene. It is thought to affect between 1 in 50,000 and 1 in 100,000 males. 

In all cases of Opitz syndrome, regardless of the genetic inheritance, there are problems with the joining and development of midline structures of a fetus during pregnancy.

Signs and symptoms

In addition to the facial and genital abnormalities associated with Opitz syndrome, such as widely-spaced eyes, cleft lip/palate and hypospadias, other symptoms may include:

  • Difficulty with speech and eating
  • Difficulty swallowing and breathing

Testing and diagnosis

Diagnosis is made by clinical findings suggestive of the syndrome. Your child’s physician will also recommend genetic testing and counseling for both your child and immediate family.

Additionally, a physician may order an echocardiogram to screen for possible associated heart malformations. A hearing evaluation will also be completed for children with cleft lip/palate.

Treatment

How Opitz syndrome is treated depends on your child’s specific set of symptoms, but may include any of the following:

  • Speech and feeding therapy
  • Tracheostomy or mandibular distraction to treat difficulty breathing
  • Regular heart monitoring if heart malformations are present
  • Surgery to treat any of the following:
    • Laryngotracheoesophageal malformations
    • Cleft lip/palate
    • Heart defects
  • Reflux medications to prevent risk of aspiration
  • Educational support if intelligence is affected
  • Neuropsychological support

Long-term outlook

The long-term outlook for children with Opitz syndrome varies and depends largely on the severity of each child’s condition. Children with brain malformations, for example, may have a different long-term outlook than those with less severe signs of the syndrome. Our team of specialists is experienced in caring for children with Opitz syndrome and has an excellent track record of success in the long-term.

Why choose us

The multidisciplinary team at CHOP is world-renowned for advancing the understanding and management of Opitz syndrome. This team of experts has access to the most up-to-date diagnostic and treatment modalities and strives to improve the lives of every patient.

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