March 2026 Research Update

This month added several single-patient reports showing that Kabuki syndrome can be identified in new situations and alongside uncommon findings, especially when a change in KMT2D or KDM6A is found. Across these reports, the pattern is that genetic testing helped explain a clinical picture that was not fully answered by imaging or earlier tests, and it expanded the list of gene changes and co-occurring conditions that have been seen with Kabuki syndrome. This builds a clearer picture that Kabuki syndrome can sometimes be recognized earlier (even before birth) or when an unexpected additional condition is present. [1] [2] [3]

One prenatal report described a fetus with increased fluid at the back of the neck on ultrasound where a chromosome test was normal, but trio exome sequencing found a new (de novo) KDM6A frameshift change leading to a diagnosis of Kabuki syndrome type 2. In plain language, this shows that a normal chromosome microarray does not always rule out Kabuki syndrome, and a more detailed genetic test may sometimes find an answer when ultrasound raises concern. The main value here is earlier recognition and a wider description of what Kabuki syndrome can look like before birth. [1]

Two other reports expanded what has been seen with KMT2D-related Kabuki syndrome by describing additional genetic findings and a rare co-occurring condition. One child with Kabuki syndrome and a congenital lung malformation (congenital pulmonary airway malformation) had a novel KMT2D missense change that was not present in the parents. Another report described a child with Kabuki syndrome type 1 who also had CFTR gene variants found incidentally, but CFTR function tests and sweat testing were normal and cystic fibrosis was not diagnosed. [2] [3]

For patients and caregivers, these reports mainly add understanding rather than changing anything immediately, because they describe single individuals. They help clarify that Kabuki syndrome may be diagnosed when more detailed genetic testing is used, including in prenatal settings when earlier chromosome testing is normal. They also show that uncommon additional findings can occur in a person with Kabuki syndrome, and that incidental results on broad genetic panels (like CFTR variants) may not match a disease diagnosis if function testing is normal. What remains uncertain is how often these rare pairings happen, since the evidence here comes from isolated cases. [1] [2] [3]

This month highlighted that eye problems in Kabuki syndrome can be serious and can involve different parts of the eye, from the cornea at birth to blood flow problems in the retina later in life. The shared pattern across these case reports is that imaging and detailed eye exams identified specific causes for vision-threatening findings, rather than describing eye differences in general terms. Together, they broaden the range of eye conditions that have been reported in Kabuki syndrome across ages. [4] [5]

One report in an adult with genetically confirmed Kabuki syndrome described reduced blood flow in the far (peripheral) retina, which was linked to new abnormal blood vessel growth and very high eye pressure consistent with secondary neovascular glaucoma. Widefield fluorescein angiography (a dye test that shows blood flow in the retina) showed areas of peripheral ischemia and leaking abnormal vessels. In plain language, this case suggests that retinal blood vessel problems can be part of Kabuki syndrome in some people and can lead to major eye complications. [4]

Another report described an infant with Kabuki syndrome confirmed by a KMT2D mutation who had congenital corneal staphyloma (a severe bulging and thinning of the cornea) affecting one eye. Imaging was used to rule out an eye tumor, and pathology after surgery confirmed the diagnosis, while the other eye developed normally. In plain language, this adds a rare but important congenital eye condition to what has been described in Kabuki syndrome. [5]

For families, these case reports do not tell how common these eye problems are, but they make the range of possible eye involvement in Kabuki syndrome clearer. The information may matter now mainly as awareness that vision symptoms or unusual eye findings can have specific underlying causes that can be seen on specialized eye testing. The evidence is early because it comes from single-patient reports, so it cannot predict risk for any one person, but it adds to the record of what has been observed across the Kabuki syndrome community. [4] [5]

One report this month described a surgical approach for hip dysplasia in a child with Kabuki syndrome, with improvement seen on follow-up imaging. Because it is a single case, it does not show what will happen for most children, but it provides a concrete example of how hip reconstruction can be planned and what outcomes may look like over about a year. The main addition this month is a detailed description of a single-stage approach used successfully in one child. [6]

In a 4-year-old boy with Kabuki syndrome and hip dysplasia on both sides, surgeons performed a single-stage bilateral reconstruction using femoral osteotomies and Dega pelvic osteotomies, without open reduction or capsular plication. Imaging after surgery showed the hips remained concentrically reduced, and at 1 year radiographs showed normalized hip socket measurements with the child weight-bearing. In plain language, this case reports that one child had stable hip positioning and improved hip shape on imaging after this type of surgery. [6]

For patients and caregivers, this is early evidence from one child, so it cannot be used to estimate success rates or risks. It may matter now mainly by adding a real-world example that orthopedic problems like hip dysplasia can be treated with complex reconstruction in Kabuki syndrome, with follow-up showing improvement in that individual. What remains uncertain is how well this single-stage approach works across different children with Kabuki syndrome and different hip anatomy, since only one case was reported. [6]