#SRHaccess Facebook LIVE Recap: Overgrowth Related Syndromes

#SRHaccess Facebook LIVE Recap: Overgrowth Related Syndromes

On this week’s #SRHaccess Facebook LIVE, Director of the Center for Excellence in Hand Scott Oishi, M.D., joined us to discuss the hospital’s expertise in caring for children diagnosed with overgrowth related syndromes. Below is a recap of the conversation.

Watch the live segment.

Common overgrowth conditions:

  • Macrodactyly – abnormally large fingers and toes caused by an overgrowth of soft tissue and bone.
  • An overgrowth related syndrome can affect the upper and lower extremities, as well as muscles throughout the body.
  • The overgrowth can have vascular anomalies – an impact to the veins and lymphatic system.
  • In the hand, the thumb, index and middle fingers are the most common extremities affected. Those fingers are along the same nerve distribution area.

Fast facts about overgrowth related syndromes:

  • Every presentation is different.
  • Severe cases where an extremity (arm or leg) is significantly bigger than the other, it is possible for it to be detected on an ultrasound.
  • Once a child is born and taken to an orthopedic specialist, the diagnosis can be clear from the physical presentation.

Once diagnosed:

  • The hospital’s hand team will counsel the family.
  • As of now, research does not show any genetic cause to an overgrowth syndrome. It is also not related to anything the mother did or did not do while pregnant.
  • A blood/tissue sample may be taken from the affected extremity to be sent off for genetic testing to see if there is a mutation in the DNA.
  • Nothing is done immediately with an infant and the hand experts will observe the patient as they grow.
  • If a child is born with an extremely enlarged limb and have rapid overgrowth within their first year of life, a treatment plan will be put in place sooner rather than later.
  • In mild cases, the child will be observed until their limb is the size of the same sex parent. From there, the doctor will decide whether intervention is needed, such as surgery.

Learn more about the common hand conditions our experts treat.

DNA Samples from Scottish Rite Hospital’s Biobank of AIS Patients Selected for Analysis

DNA Samples from Scottish Rite Hospital’s Biobank of AIS Patients Selected for Analysis

Director of Molecular Genetics and Basic Science Carol Wise, Ph.D. and Assistant Director of Molecular Genetics Jonathan Rios, Ph.D. are in Rockville, Maryland attending the inaugural Kids First Program annual meeting held at Johns Hopkins University- Montgomery County Campus. Rios was awarded a grant through the Gabriella Miller Kids First Pediatric Research Program to fund his project, “Genomics of Orthopaedic Disease (GOOD for Kids), which utilizes next-generation genomic technologies to discover the genetic causes of adolescent idiopathic scoliosis (AIS). DNA samples from Scottish Rite Hospital’s biobank of AIS patients and families have recently been selected for analysis.  

The Gabriella Miller Kids First Pediatric Research Program was established as a resource for researchers everywhere to access a vast amount of genetic data from children diagnosed with cancer and other birth defects. The purpose of this program is to create a large data set of sequenced DNA from thousands of individuals to understand pediatric diseases and ultimately find the cause. In 2014, the Gabriella Miller Kids First Research Act was signed into law authorizing to support a fund specifically for pediatric research.
The Kids First Program is at the forefront of innovation. Along with federal support, our team at Scottish Rite Hospital is an integral part of this national project and is conducting ongoing research to understand the causes of various pediatric diseases. 

Carol Wise, Ph.D., and Jonathan Rios, Ph.D., are professors at the University of Texas Southwestern Medical Center (UTSW). Dr. Wise is a Professor in the McDermott Center for Human Growth and Development, Pediatrics, and Orthopedic Surgery and Dr. Rios is an Associate Professor of Pediatrics and Orthopedic Surgery.