Kabuki syndrome: a genetic condition that occurs in one in every 32,000 births | Daily Change

On October 25, the International Day of Kabuki Syndrome is commemorated, a commemoration to which the MSP adheres to raise awareness about this pathology, which has an estimated incidence of 1 subject in every 32,000. Kabuki syndrome is a rare genetic condition that is generally related to low muscle tone, slow postnatal growth, developmental delay, and mild to moderate learning difficulties. People with Kabuki are more likely than most people to be affected by a number of medical conditions and display distinctive musculoskeletal and facial features.
DESCRIBED IN 1981
This mutation can have many implications for development, but there are some common features that give the syndrome its name, which was first described in Japan in 1981. And its physical features are very reminiscent of kabuki (or mask in Japanese), the makeup of the actors of the traditional Japanese theater Kabuki.
FEATURES
• Facial dysmorphia: that is, abnormal facial features, such as large, almond-shaped eyes, long eyelids, bushy eyelashes, sparse, arched eyebrows, prominent ears, and a broad, depressed tip of the nose.
• Skeletal abnormalities: including a little finger that bends inward (clinodactyly), blows to the fingertips (called fetal pads), joint hypermobility, low muscle tone (hypotonia) …
• Mild to moderate intellectual disability: In some cases the level of intellectual disability is very low, almost imperceptible.
Severe intellectual disability is very rare.
• Delayed and slow growth: usually manifested in the form of short stature and low weight, but after delivery, since they are born with a normal weight.
• Varied feeding difficulties: from gastroesophageal reflux to severe feeding problems where you may even need nasogastric tube feeding or placement of a gastrostomy.