Receiving a rare disease diagnosis can be challenging. It can be even more challenging when there isn’t a lot of information to lean back on. While there has been some research done into KBG syndrome, a rare genetic disorder, fewer than 800 people worldwide have been diagnosed.

1-year-old Oliver Holtrop is part of the KBG syndrome community. According to reporting from Wood TV, Holtrop was diagnosed when he was just six months old. From the time he was born, his mother Jessica was concerned about his health. Holtrop was sick a lot in the early months and had an abnormally large fontanelle. Jessica pursued help after Holtrop failed to hit certain developmental milestones.

At first, learning that her son had KBG syndrome was frightening. But Jessica took that fear and channeled it to raise awareness. She shares some of the symptoms associated with KBG syndrome, including feeding difficulties, and is also open about her son’s progression. Right now, Holtrop is doing well; he loves to play with his older brother and his blocks. 

Unfortunately, because KBG syndrome is so rare, the family sometimes struggles with medical coverage. Jessica hopes that, in the future, increased awareness can prompt insurance to help them better manage care. 

About KBG Syndrome

As described above, KBG syndrome is a rare genetic disorder caused by ANKRD11 gene mutations or microdeletions on chromosome 16q. This disorder affects many bodily systems. While we know some information about KBG syndrome, more research is needed to better understand the disorder and potential treatments.

Symptoms related to KBG syndrome may include: 

• Macrodontia (large front teeth)
• Short to normal stature
• Scoliosis
• Pectus excavatum
• Delayed fontanelle closure
• Congenital heart defects
• Developmental or intellectual delays 
• Characteristic head and facial features such as:
  • A flat back of the head
  • Eyes that are crossed or widely spaced 
  • Wide, bushy eyebrows
  • A full tip of the nose with upturned nostrils 
  • Prominent ears
  • Thin, bow-shaped lips
• Hearing loss
• Recurrent ear infections
• Dry, itchy skin
• Behavioral issues such as impulsivity, poor concentration, ADHD, or anxiety
• Feeding difficulties
• Seizures