Kabuki syndrome is associated with intellectual disability, but the most characteristic symptom that occurs in all patients is facial dysmorphia - the faces of patients resemble the disguised faces of actors in the traditional Japanese Kabuki theater (Kumadori).
Kabuki syndrome(Kabuki makeup syndrome, Niikawa-Kuroki syndrome, Kabuki makeup syndrome, KMS, Niikawa-Kuroki syndrome) was first described in Japan by doctors: Norio Niikawa and Yoshikazu Kuroki in the early 1980s. The name comes from the fact that the specific symptoms of the disease concern facial dysmorphia, which resembles the characterization of actors from traditional Japanese kabuki theater. The disease is genetic and in most cases it is caused by a mutation of one of the genes. It occurs sporadically, i.e. neither parent has to carry the mutated gene for a child to be born with Kabuki syndrome. However, the symptoms may be more or less intense, so it is not always possible to say that a child suffers from this rare disease right after the birth of a child.
Kabuki syndrome: visible symptoms
Immediately after delivery, a newborn can get even 8 or 9 points on the Apgar scale and develop properly in the first few weeks. What usually worries doctors at the very beginning is too little muscle tension and problems with sucking (lack of reflex, problems with swallowing, pouring). When a newborn does not gain weight properly, a tedious search for the cause begins. It is much easier to diagnose slightly older children, because the characteristic features of the face appear. They include :
- long eyelid fissures
- tilt of the lateral part of the lower eyelid
- wide spacing of eye sockets
- large, arched eyebrows, but often thinning on the sides
- blue sclera of the eyeball
- quite wide bridge of the nose
- so-called diagonal wrinkles, i.e. a skin fold running from the upper to the lower eyelid
- raised upper lip with open mouth
- often protruding and quite thick auricles
- sometimes a cleft palate and defects in the dentition (e.g. missing tooth buds or widely spaced).
Kabuki syndrome: further symptoms
The symptoms of Kabuki syndrome are not only andonly external features. Unfortunately, the disease is also accompanied by changes in the skeletal and skeletal systems, which include:
- brachydactyly (short-fingeredness), especially the little finger, which may additionally be bent
- spine defects (scoliosis, incorrectly developed vertebrae)
- problems with joints, especially their excessive mobility
- so-called fetal pads of the fingers and toes, which are convex and cushion-like.
In the case of children with Kabuki syndrome, congenital heart defects and cardiac conduction disorders are also a big problem:
- ventricular septal defect
- atrial septal defect
- tetralogy of Fallot
- aortic coarctation
- patent ductus arteriosus
- aortic aneurysm
- relocation of large vessels
- block of the right branch of the bundle of His.
Children with Kabuki syndrome also do not gain weight properly, they grow too slowly, which in turn causes disturbances in motor development (later they start to sit down and walk). Usually, they also have intellectual disabilities to a greater or lesser extent, usually mild or moderate.
Kabuki syndrome: diagnostics
If genetic tests confirm Kabuki syndrome, the child will face further diagnosis, because the disease may be accompanied by other birth defects, e.g. of the heart, digestive, urinary or endocrine systems. Some patients may also develop epileptic seizures, microcephaly, brain defects, and often children are more susceptible to upper respiratory tract infections. For this reason, young patients must be looked after not only by a pediatrician, but also by specialist doctors, including a neurologist, orthopedist, endocrinologist or cardiologist, depending on what diseases accompany Kabuki syndrome. The disease is not curable, but rehabilitation is used to improve the quality of life of patients and prevent significant developmental delays. At an early stage, good results are obtained, among others, by exercise therapy using the NDT-Bobath method, which primarily supports infants and young children with neurological disorders or abnormalities in motor development. In such a case, rehabilitation consists in stimulating the body of young patients to help develop proper reflex reactions, and it has a positive effect on proper muscle tone. Other readily used rehabilitation methods include Vojta's method, sensory integration or speech therapy.