Which are the symptoms of Kabuki syndrome?

Symptoms of Kabuki Syndrome

Kabuki syndrome, also known as Kabuki make-up syndrome or Niikawa-Kuroki syndrome, is a rare genetic disorder that affects multiple systems in the body. It is characterized by distinct facial features, developmental delays, and various other health issues. While the severity and combination of symptoms can vary from person to person, there are several key features commonly associated with Kabuki syndrome.

Distinct Facial Features

One of the hallmark signs of Kabuki syndrome is the unique facial appearance that individuals with the condition often exhibit. These facial features can include:

• Arched and broad eyebrows: The eyebrows may be arched and sparsely distributed.


• Long palpebral fissures: The space between the upper and lower eyelids may be longer than usual.


• Depressed nasal tip: The tip of the nose may be flattened or depressed.


• Prominent ears: The ears may be larger or more prominent than typical.


• High-arched palate: The roof of the mouth may have a high arch.


• Micrognathia: The lower jaw may be smaller in size.

Developmental Delays

Individuals with Kabuki syndrome often experience developmental delays, which can affect various aspects of their growth and abilities. These delays may include:

• Delayed motor skills: Children with Kabuki syndrome may have difficulty reaching developmental milestones such as sitting, crawling, or walking.


• Delayed speech and language: Speech and language development may be delayed, and individuals may have difficulty with articulation and expressive language.


• Cognitive impairment: Intellectual disability or learning difficulties may be present in some individuals with Kabuki syndrome, although the degree of impairment can vary.

Physical and Medical Issues

Kabuki syndrome can also affect various systems in the body, leading to a range of physical and medical issues. Some of these include:

• Short stature: Individuals with Kabuki syndrome may have a shorter stature compared to their peers.


• Heart abnormalities: Congenital heart defects, such as ventricular septal defects or atrial septal defects, can occur in some individuals.


• Hearing loss: Sensorineural hearing loss or conductive hearing loss may be present.


• Immunodeficiency: Some individuals may have a weakened immune system, making them more susceptible to infections.


• Skeletal abnormalities: Skeletal issues, such as scoliosis or joint hypermobility, may be observed.


• Eye abnormalities: Strabismus (crossed eyes), ptosis (drooping eyelids), or refractive errors may be present.


• Feeding difficulties: Infants with Kabuki syndrome may have difficulties with feeding, such as poor suck or swallowing problems.

Behavioral and Psychological Characteristics

Individuals with Kabuki syndrome may exhibit certain behavioral and psychological characteristics, which can vary widely. These may include:

• Intellectual disability: Some individuals may have mild to moderate intellectual disability.


• Autistic-like behaviors: Traits commonly associated with autism spectrum disorder, such as social communication difficulties, repetitive behaviors, and restricted interests, may be present.


• Anxiety and mood disorders: Some individuals may experience anxiety, depression, or other mood disorders.


• Hyperactivity: Hyperactive behavior or attention deficit hyperactivity disorder (ADHD) may be observed in some individuals.

It is important to note that not all individuals with Kabuki syndrome will exhibit every symptom mentioned above. The combination and severity of symptoms can vary, making each case unique. Early diagnosis and intervention can greatly improve the quality of life for individuals with Kabuki syndrome, as it allows for appropriate medical management and support tailored to their specific needs.