Cornelia de Lange Syndrome (CdLS) is a genetic developmental disorder present from birth that affects multiple parts of the body. Its features range from mild to severe and vary widely among individuals. While this condition is recognized in infancy or childhood, the experience of adults with CdLS presents a unique set of characteristics and needs that evolve over time.
Physical and Developmental Characteristics in Adulthood
The distinctive facial features associated with Cornelia de Lange Syndrome persist throughout an individual’s life. These include eyebrows that are arched and often meet in the middle (synophrys), complemented by long, curling eyelashes. Other enduring characteristics are a short, upturned nose with a concave nasal bridge, a long and smooth philtrum, and thin lips. An undersized jaw and small, widely spaced teeth are also common dental findings in adults.
Adults with CdLS almost always have a short stature and a small frame, a result of growth patterns established early in life. While low body weight is common in childhood, some individuals may experience obesity in adulthood. The head size, or microcephaly, also remains proportionally small throughout life.
Musculoskeletal and limb differences are a hallmark of the syndrome. Many individuals have noticeably small hands and feet. Limb differences can range from an incurving fifth finger (clinodactyly) to more significant abnormalities, such as missing fingers, hands, or portions of forearms. Excessive body hair (hirsutism), particularly on the back and nape of the neck, also continues into adulthood.
Common Medical Conditions
Adults with CdLS manage a range of chronic medical conditions, with gastrointestinal issues being especially prevalent. Gastroesophageal reflux disease (GERD) affects a vast majority of individuals. This condition, where stomach acid flows back into the esophagus, can cause discomfort and lead to behavioral changes. Unmanaged, chronic GERD can lead to serious complications like Barrett’s esophagus, which may occur at an earlier age in this population.
Orthopedic problems can progress with age. Scoliosis, or curvature of the spine, is a reported issue, alongside difficulties with gait and restricted movement in joints, particularly the elbows. Hip abnormalities are also documented in a segment of the adult population.
Sensory deficits are common and can worsen over time. Hearing loss affects a significant percentage of adults, and vision problems are also widespread. These issues can include high myopia (nearsightedness), ptosis (drooping eyelids), and nystagmus. Regular screenings are important, as these sensory challenges affect communication and interaction. Less frequently, cardiac and respiratory conditions can also be present.
Behavioral and Psychological Profile
Many individuals exhibit a strong preference for routine and predictability, and disruptions to this structure can cause significant anxiety. This insistence on sameness can strengthen with age. Behaviors similar to those seen in obsessive-compulsive disorder are common, including lining up objects or other ritualistic actions. These repetitive behaviors are thought to be associated with anxiety and sensory processing differences.
Communication abilities exist on a wide spectrum. Many individuals with CdLS have expressive communication skills that are more limited than their ability to understand language. Some may remain non-verbal throughout their lives, relying on gestures and other non-verbal strategies to communicate, while others develop good speech skills. Social anxiety can further impact an individual’s willingness to engage in verbal communication, sometimes leading to selective mutism.
Socially, adults with CdLS are often described as having a shy but friendly demeanor. However, they can also experience social withdrawal, which may become more pronounced with age. A portion of individuals may engage in self-injurious behaviors, such as self-biting or hitting. These behaviors can be a response to pain, anxiety, or communication frustration.
Aging and Long-Term Care Considerations
Some evidence suggests a pattern of premature aging, which can manifest as early graying of hair or the progression of osteoporosis. This may be linked to the underlying genetic mechanisms of the syndrome that affect cell maintenance. Despite this, many adults with CdLS are generally healthy and have a low incidence of common age-related diseases like hypertension or cancer.
A stable and supportive environment is important for quality of life. Many adults with CdLS continue to live with their families, while others may thrive in supported living arrangements or group homes. The transition from pediatric to adult healthcare services requires careful planning to find physicians experienced with special needs.
A multidisciplinary healthcare team is beneficial for managing the varied aspects of the syndrome. This team often includes specialists in gastroenterology, orthopedics, audiology, and ophthalmology, coordinated by a primary care physician. Continued access to therapies and vocational or day programs provides purpose, social engagement, and opportunities for development.