Kabuki syndrome treatment depends upon the physical problems that an individual has. Early diagnosis and treatment are essential. Those with KS may need the services of specialists, including: ...

A toddler who had trouble getting around with her oxygen tank is now getting help from a kind group of sixth grade students. Emmett Hightshoe was diagnosed with Kabuki syndrome in utero.

Dr. Jacqueline Harris of Kennedy Krieger’s Epigenetics Clinic received a $125,000 grant for her research efforts into the cause and treatment of Kabuki syndrome.

Dr. Jacqueline Harris, a pediatric neurologist and director of Kennedy Krieger’s Epigenetics Clinic, received a $125,000 grant from the Kabuki Syndrome Foundation (KSF) for her research efforts ...

Scientists have known for years that mutations in the MLL4 gene can cause Kabuki syndrome, a rare developmental disorder. But a study published on Jan. 11 in Nature Communications illuminates new ...

Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears and postnatal growth deficiency. J Paediatr 1981; 99 : 565–569. Article CAS Google Scholar ...

Jennifer Cooney knew something was wrong with her youngest son's health in the first several months of his life, even though medical professionals around her kept insisting everything was fine.

Scientists have known for years that mutations in the MLL4 gene can cause Kabuki syndrome, a rare developmental disorder. But a study published on Jan. 11 in Nature Communications illuminates new ...

Using a new DNA sequencing strategy, scientists have discovered genetic alterations that account for most cases of Kabuki syndrome, a rare disorder that causes multiple birth defects and mental ...

BUFFALO, N.Y. — Scientists have known for years that mutations in the MLL4 gene can cause Kabuki syndrome, a rare developmental disorder. But a study published on Jan. 11 in Nature Communications ...