Wiedemann-Rautenstrauch syndrome

Wiedemann-Rautenstrauch syndrome is a type of progeria. People with progeria have certain features that make them look older than they are. The signs and symptoms of Wiedemann-Rautenstrauch syndrome begin before birth as affected individuals do not grow and gain weight at the expected rate (intrauterine growth restriction).

People with Wiedemann-Rautenstrauch syndrome have distinctive facial features that give the appearance of old age. They often have a triangular face with a prominent forehead and pointed chin, a small mouth with a thin upper lip, a small jaw, low-set ears, and abnormal lower eyelids. In most affected individuals, the middle of the face looks as though it is drawn inward (midface retraction). On the head, hair is sparse, and the veins are prominent.

In people with Wiedemann-Rautenstrauch syndrome, the spaces (fontanelles) between the skull bones (that are noticeable as "soft spots" on the heads of infants) are larger than normal. The fontanelles normally close in early childhood, but they may remain open in people with this condition. Individuals with Wiedemann-Rautenstrauch syndrome may appear to have an abnormally large head, but their head size is typically normal for their age (pseudohydrocephalus).

Some individuals with Wiedemann-Rautenstrauch syndrome have intellectual disabilities. Affected children may also have developmental disabilities.

Many affected infants are born with teeth (natal teeth); these teeth fall out a few weeks after birth. Some or all of their permanent (adult) teeth may never develop (hypodontia).

A lack of fatty tissue under the skin (lipodystrophy), particularly in the face, arms, and legs, can make people with Wiedemann-Rautenstrauch syndrome look older than they are. In addition, the skin is thin and translucent.

Some individuals with Wiedemann-Rautenstrauch syndrome develop joint abnormalities called contractures that can limit movement. Additionally, movement problems such as difficulty with coordination and balance (ataxia) or involuntary rhythmic shaking (tremor), can appear during childhood and worsen over time. Some people with Wiedemann-Rautenstrauch syndrome have vision or hearing problems.

While many people with Wiedemann-Rautenstrauch syndrome do not survive past infancy or early childhood, others live into their teens or twenties.