Testing Your Baby for Langer-Giedion Syndrome

Langer-Giedion syndrome, also known as Trichorhinophalangeal syndrome type II (TRPS2), is an extremely rare but serious genetic condition that affects multiple systems throughout the body. Langer-Giedion syndrome can occur in a child of either sex, but research suggests that it is three times more common in males than in females.

The condition affects every child differently, but common symptoms include:

• Fine, thin hair

• Unusual facial features

• Slowed growth that results in dwarfism

• Abnormally short fingers and toes

• Bony growths that extend outward

• Excess folds of skin

Many children with Langer-Giedion syndrome also experience mild to severe mental retardation, hearing loss, and delayed speech development.

Is There Any Way to Test for Langer-Giedion Syndrome?

If you are expecting and want more information about the risk of having a baby with Langer-Giedion syndrome, consider taking a non-invasive prenatal test (NIPT). This simple, painless procedure can determine your risk of having a son or daughter with a genetic disorder.

During pregnancy, your blood carries a mixture of microscopic particles called cfDNA. cfDNA comes from your cells and the cells of the placenta. The DNA found in placental cells is identical to the cells of your growing baby. By analyzing the cfDNA from your placenta, it’s possible to identify certain genetic abnormalities early on.

NIPT is quick and involves your OB/GYN or general practitioner conducting a simply in-office blood draw. Afterward, your provider sends your blood sample to a laboratory for further testing. If you have any questions about the results of your test, your OB/GYN or general practitioner can refer you to a genetic counselor. A genetic counselor can explain the results in greater depth and help you better plan for the future.

What Causes Langer-Giedion Syndrome?

Langer-Giedion syndrome occurs due to deletions of genetic material on chromosome eight. Research shows that Langer-Giedion syndrome is passed through autosomal dominant inheritance. This means that a single copy of the disease-associated mutation is enough to trigger the disease.

A child with Langer-Giedion syndrome can inherit the abnormal gene from either parent, or it can occur due to a new gene mutation. If a mother or father carries the gene for Langer-Giedion syndrome, there’s a 50% chance they’ll pass it onto their child.

What Should I do if my Baby is Diagnosed with Langer-Giedion Syndrome?

Learning that your baby has Langer-Giedion syndrome can be overwhelming. However, early detection and intervention can improve your child’s quality of life. Special services like speech therapy, physical therapy, and surgery to remove exostoses (bone growths) can improve language and communication skills as well as overall mobility.

Your OB/GYN or general practitioner can refer you to a genetic counselor. A genetic counselor can help you better understand what to expect. They can also provide you support and counseling or refer you to support or advocacy networks like TRPS Support Group UK or the National Organization for Rare Disorders (NORD).