Tag Archives: development

Popliteal Pterygium Syndrome

What is popliteal pterygium syndrome?
Popliteal pterygium syndrome is a condition that affects the development of the face, skin, and genitals. Most people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals may have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with popliteal pterygium syndrome have missing teeth.

Individuals with popliteal pterygium syndrome may be born with webs of skin on the backs of the legs across the knee joint, which may impair mobility unless surgically removed. Affected individuals may also have webbing or fusion of the fingers or toes (syndactyly), characteristic triangular folds of skin over the nails of the large toes, or tissue connecting the upper and lower eyelids or the upper and lower jaws. They may have abnormal genitals, including unusually small external genital folds (hypoplasia of the labia majora) in females. Affected males may have undescended testes (cryptorchidism) or a scrotum divided into two lobes (bifid scrotum).

People with popliteal pterygium syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, may have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with popliteal pterygium syndrome is not significantly different from that of the general population.

How common is popliteal pterygium syndrome?
Popliteal pterygium syndrome is a rare condition, occurring in approximately 1 in 300,000 individuals.

What genes are related to popliteal pterygium syndrome?
Mutations in the IRF6 gene cause popliteal pterygium syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes.

The IRF6 protein is active in cells that give rise to tissues in the head and face. It is also involved in the development of other parts of the body, including the skin and genitals.

Mutations in the IRF6 gene that cause popliteal pterygium syndrome may change the transcription factor’s effect on the activity of certain genes. This affects the development and maturation of tissues in the face, skin, and genitals, resulting in the signs and symptoms of popliteal pterygium syndrome.

How One Toys ‘R’ Us Trip Brought Mobility to Hundreds of Disabled Kids

These $200 alternatives to power wheelchairs are helping physically impaired kids get moving.

Cole Galloway’s workspace at the University of Delaware resembles a ransacked toy store. There are piles of plastic tubing, swim noodles, stuffed animals, and battery-powered Jeep and Barbie cars everywhere. But Galloway, 48, is a physical therapy professor and infant behavior expert whose lab has a very clear mission: to provide mobility to children with cognitive or physical disabilities.

Galloway started his infant behavior lab to study how children learn to move their bodies. He was particularly interested in finding ways to close what he calls “an exploration gap” — the difference between typically developing children and those who suffer from mobility issues due to conditions like cerebral palsy and Down syndrome. In 2007 Sunil Agrawal, a professor of mechanical engineering at the university, approached Galloway in a conversation he says went something like this: I’ve got small robots. You’ve got small babies. I wonder if we can do something together.

The two professors started building power mobility robots that let disabled children explore their surroundings with greater confidence and independence. But due to the cost and heft of the parts, their early vehicles cost tens of thousands of dollars and weighed up to 150 pounds, making them inaccessible to the families who needed them the most. Galloway’s solution to those problems came to him during a visit to Toys ‘R’ Us, where he saw he could shift his vision of “babies driving robots” to the lower tech “babies driving race cars.” It was then that Go Baby Go was born.

Unlike electric wheelchairs, which are usually reserved by kids above age three, Galloway’s cars can be used in the critical early years of development. He estimates that so far Go Baby Go has retrofitted an estimated 100 toy cars, a small dent for the more than half a million American children under the age of five who have mobility problems. To spread his mission, Galloway has traveled across the country, posted YouTube videos and spoken with dozens of parents. He hopes that others can learn from his work and build cars of their own: “If you’re not going to drop what you’re doing and come work for us, at least contact us — we’ll send you everything we have.”