What are the early symptoms of Kabuki syndrome?
Dec 31, 2024
Source: Cainiu Health
Dr. Lv Zhiqin
Introduction
In general, Kabuki syndrome, also known as Kabuki make-up syndrome, is a rare genetic disorder. The early symptoms of this disease usually begin to appear around the age of 1 year in affected children, and the symptoms become more pronounced as the child grows older. Early symptoms mainly include distinctive facial features, growth and developmental delays, intellectual disability, hypotonia, and cardiovascular system abnormalities.
Generally, Kabuki syndrome, also known as Kabuki mask syndrome, is a rare genetic disorder. The early symptoms of this condition typically begin to manifest around the age of 1 year, and symptoms tend to become more pronounced with age. Early symptoms mainly include distinctive facial features, delayed growth and development, intellectual disability, hypotonia, and cardiovascular system abnormalities. A detailed analysis is as follows:
1. Distinctive Facial Features
Children with Kabuki syndrome often exhibit characteristic facial features, such as laterally elongated palpebral fissures, epicanthal folds, mild lateral one-third ectropion of the lower eyelids, and arched eyebrows with sparse lateral one-third portions. The nasal tip may appear flattened or the nasal septum may be short, often accompanied by an arched palate, cleft palate, dimpling of the lower lip, or cleft lip and other craniofacial abnormalities. The ears are typically large and protruding, teeth may erupt late and be misaligned, the jaw is small, and the hairline at the back of the head is low.
2. Delayed Growth and Development
After birth, children may experience slow growth and short stature is a common manifestation. Weight and height may be below average for their age, and these differences may become more pronounced as they grow older.
3. Intellectual Disability
Most affected children exhibit varying degrees of intellectual impairment, including poor learning ability, delayed language development, and deficits in memory and attention. Intellectual functioning typically falls within the moderate range of disability, with IQ scores generally between 30 and 83.
4. Hypotonia
Children may exhibit hypotonia, characterized by muscle laxity and impaired postural balance. This may lead to difficulties in standing or walking, and even cause falls.
5. Cardiovascular Abnormalities
Congenital heart defects are common complications of Kabuki syndrome, which may include coarctation of the aorta, ventricular septal defects, and atrial septal defects. Children may present with heart murmurs, palpitations, dyspnea, and in severe cases, life-threatening complications may occur.
It should be noted that symptoms of Kabuki syndrome vary among individuals, and not all affected children will display all of the aforementioned symptoms. If Kabuki syndrome is suspected in a child, prompt medical consultation for genetic counseling and chromosomal analysis is recommended to enable early diagnosis and the development of an individualized treatment plan. Additionally, emotional support and care from family and society play a crucial role in the child's development.
