Which are the symptoms of Cornelia de Lange Syndrome?

Symptoms of Cornelia de Lange Syndrome

Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder that affects multiple systems in the body. It is characterized by a wide range of physical, cognitive, and developmental abnormalities. The severity of symptoms can vary greatly among individuals with CdLS, making it a highly heterogeneous condition.

Facial Features:

One of the most distinctive characteristics of CdLS is the presence of distinct facial features. These may include:

• Low-set ears: The ears are positioned lower than usual.


• Arched eyebrows: The eyebrows may have a high, arched shape.


• Long eyelashes: Individuals with CdLS often have long and curly eyelashes.


• Thin upper lip: The upper lip may appear thin and downturned.


• Small nose: The nose may be small and upturned.


• Microcephaly: Some individuals with CdLS have a small head size.

Growth and Development:

CdLS can affect growth and development in various ways:

• Small stature: Individuals with CdLS tend to be shorter than average.


• Delayed growth: Growth milestones, such as sitting, walking, and talking, may be delayed.


• Cognitive impairment: Most individuals with CdLS have some degree of intellectual disability.


• Speech and language delays: Communication skills may be significantly delayed.


• Feeding difficulties: Infants with CdLS may have difficulty feeding due to poor muscle tone and coordination.

Skeletal Abnormalities:

CdLS can affect the skeletal system, leading to various abnormalities:

• Limb differences: Some individuals may have missing or underdeveloped fingers or toes.


• Small hands and feet: The hands and feet may be smaller than average.


• Scoliosis: Curvature of the spine, known as scoliosis, is common in CdLS.


• Joint stiffness: Limited range of motion and joint contractures may be present.

Organ Involvement:

CdLS can affect various organs and systems in the body:

• Heart defects: Structural abnormalities of the heart may be present.


• Gastrointestinal issues: Problems such as gastroesophageal reflux disease (GERD), feeding difficulties, and constipation are common.


• Genitourinary abnormalities: Kidney and urinary tract abnormalities may occur.


• Hearing loss: Some individuals may have hearing impairment.


• Vision problems: Refractive errors, strabismus, and other visual impairments can be seen.

Behavioral and Psychological:

Individuals with CdLS may exhibit certain behavioral and psychological characteristics:

• Autistic-like behaviors: Some individuals may display repetitive behaviors, social difficulties, and communication challenges similar to those seen in autism spectrum disorder.


• Self-injurious behaviors: Some individuals may engage in self-harming behaviors, such as head-banging or biting.


• Anxiety and hyperactivity: These traits may be present in some individuals.


• Aggression: Aggressive behaviors can occur, although they are not universal.

It is important to note that not all individuals with CdLS will exhibit all of these symptoms. The severity and combination of symptoms can vary widely, even among affected family members. Early diagnosis and intervention are crucial in managing the condition and providing appropriate support and care.