Cornelia de Lange syndrome (Year of the Zebra)

Summary

Cornelia de Lang Syndrome (CdLS) is a rare genetic disorder marked by distinct facial features, growth delays, limb malformations, and intellectual disabilities. Caused by mutations in genes regulating chromosome structure, CdLS can be inherited or arise from new mutations. Symptoms vary but may include feeding difficulties, heart defects, respiratory issues, and behavioral challenges. Diagnosis typically occurs at birth or infancy, with genetic testing confirming mutations. While there is no cure, management focuses on addressing individual symptoms with therapies and surgeries. Early intervention is key to supporting development in those with CdLS.

Takeaways

• 😀 Cornelia de Lang Syndrome (CDLS) is a rare genetic disorder with distinctive facial features, growth delays, and intellectual disabilities.
• 😀 CDLS is caused by mutations in genes that regulate the cohesion protein complex, crucial for chromosome structure during cell division.
• 😀 The severity of CDLS varies greatly depending on the type of mutation and the affected gene.
• 😀 More than half of CDLS cases involve mutations in the NIPBL gene, which is associated with more severe symptoms.
• 😀 CDLS can be inherited in an autosomal dominant or X-linked pattern, but most cases result from new mutations with no family history.
• 😀 Common facial features of CDLS include a small head, short nose with a concave bridge, thin lips, and thick eyebrows that meet at the base of the nose.
• 😀 Individuals with CDLS often experience growth delays before and after birth, low birth weight, and feeding difficulties.
• 😀 Additional symptoms may include gastrointestinal issues, respiratory problems, congenital heart defects, hearing and vision impairments, and a low-pitched cry.
• 😀 Limb abnormalities in CDLS can include smaller hands and feet, short or curved fingers, and webbed toes.
• 😀 Diagnosis is typically made at birth or during infancy based on clinical features, with genetic testing confirming mutations in the NIPBL gene and others.
• 😀 Management of CDLS focuses on treating individual symptoms, including medication for reflux, surgery for heart defects, and therapies to promote development.

Q & A

What is Cornelia de Lange Syndrome (CDLS)?

Cornelia de Lange Syndrome (CDLS) is a rare genetic disorder that causes distinctive facial features, restricted growth, malformations of the hands and feet, and developmental delays.

What is the genetic cause of Cornelia de Lange Syndrome?

CDLS is caused by mutations in genes that regulate the expression of cohesion, such as the NIPBL gene, which is crucial for maintaining chromosome structure during cell division.

How does the severity of Cornelia de Lange Syndrome vary among individuals?

The severity of CDLS varies greatly depending on the type of mutation and the affected gene. For example, mutations in the NIPBL gene tend to be associated with more severe forms of the disorder.

What are the characteristic facial features of Cornelia de Lange Syndrome?

Distinctive facial features of CDLS include a small head size, short nose with a concave bridge, upturned nostrils, thin downturned lips, and thick eyebrows that often grow together at the base of the nose.

What are some of the common health issues associated with Cornelia de Lange Syndrome?

Common health issues include gastrointestinal problems such as gastroesophageal reflux, heart defects, respiratory and ear infections, hearing and visual impairments, and an increased risk of bowel obstruction.

How is Cornelia de Lange Syndrome typically diagnosed?

CDLS is often diagnosed at birth or during infancy based on its characteristic clinical features. Genetic testing can confirm the diagnosis, especially to identify mutations in genes like NIPBL.

Can Cornelia de Lange Syndrome be diagnosed before birth?

Yes, in some cases, CDLS can be suspected before birth through prenatal ultrasounds that show growth restriction and specific facial or limb abnormalities.

What is the typical growth pattern for individuals with Cornelia de Lange Syndrome?

Individuals with CDLS often experience growth delays before and after birth, leading to low birth weight and difficulty gaining weight or growing at the expected rate during infancy.

What are the behavioral challenges faced by individuals with Cornelia de Lange Syndrome?

Children with CDLS may exhibit behavioral issues such as aggression, self-harming behaviors (e.g., head banging or self-biting), repetitive behaviors, and speech or communication delays.

Is there a cure for Cornelia de Lange Syndrome?

There is no cure for CDLS, but management involves addressing specific symptoms and issues, such as using medications for gastroesophageal reflux, surgical interventions for heart defects, and physical therapy to aid development.