Question:

Do you have any information on a congenital birth defect known as Trenaway Webber? I am not sure on the spelling . It is a hardening of the skin.

Answer:

The disorder you may be asking about is known as Klippel-Trenaunay syndrome or sometimes called Klippel-Trenaunay-Weber syndrome.

K-T syndrome is a fairly rare congenital problem that includes specific types of birth marks called port wine stains or cutaneous capillary malformations and hypertrophy (excessive overgrowth) of soft tissue or bone – usually seen in a limb (foot, leg, arm or hand). People with K-T syndrome can also have what is known as venous malformations or lymphatic abnormalities.

I am not aware of these patients having hardening of the skin with this syndrome. Perhaps you are thinking of the overgrowth that can occur –

The specific cause is not known at this time. It usually is NOT inherited.

There is a very good website and support group (see below) for families that have K-T syndrome. If you have additional questions, you might ask your doctor for a referral to a genetic counselor or geneticist to disucss this in detail. You can find a genetics center near you at the National Society of Genetic Counselors website below.

For more information:

National Society of Genetic Counselors
The Klippel-Trenaunay Syndrome Support Group

Response by:

Anne Matthews, R.N., Ph.D. Director, Genetic Counseling and Family Studies Center for Human Genetics School of Medicine Case Western Reserve University