Wiedemann-Rautenstrauch syndrome
Wiedemann-Rautenstrauch syndrome, also called neonatal progeroid syndrome, or WRS is an exceedingly rare inherited disease that is present at birth. It affects boys and girls equally and has been seen in several racial and ethnic groups.
Contents |
Definition & Facts
A baby who is born with Wiedemann-Rautenstrauch syndrome fails to grow normally before and after birth and does not have the normal amount of fat under their skin, a condition called lipoatrophy. They usually do not live to adulthood. As the condition is a genetic disorder, there are families where there is more than one child with this disease, though the parents themselves are unaffected.
Symptoms & Complaints
As time passes, fat deposits can start to appear around the lower part of the child's body, particularly the genitals, the buttocks, the anus, and around the hips and the ribs. The abdomen may also seem distended.
Another symptom of this condition is difficulty swallowing, or dysphagia. Because this makes it difficult for the baby to eat, the baby experiences failure to thrive and cannot gain weight.
Neurological symptoms also occur with this disease, though their manifestations vary from one child to the other. These include developmental delays such as delays in learning how to walk. Many children with Wiedemann-Rautenstrauch syndrome are also mentally and intellectually impaired.
Neurological problems tend to worsen over time. Medical experts suspect that this is because the protective myelin sheath over the nerves found inside of the brain’s white matter starts to break down. Other abnormalities in the child’s brain may also contribute to the deterioration of their nervous system.
Children with this disorder may also have little muscle tone and trouble coordinating movements of the chest. They may also suffer tremors while trying to perform certain actions or movements. Some WRS syndrome babies have a hoarse, unpleasant cry while others have a cry that’s unusually high-pitched.
Babies and children with Wiedemann-Rautenstrauch syndrome often have craniofacial abnormalities. They may have an unusually large soft spot at the front of their skull. Though normal babies are born with soft spots (fontanelles) in their skulls to facilitate birth and growth, the soft spots in children with WRS take a long time to close. The bones in the child’s forehead and the sides of their skull are unusually large while the bones in their face are underdeveloped and abnormally small.
They may also have tiny mouths, large chins, ears set low and angled toward the back of their head, and a beak-shaped nose that becomes more noticeable as the child ages. Babies with the syndrome may also be born with front teeth that are lost shortly after birth, and the eruption of the other teeth may be delayed and abnormal.
The lower eyelids may droop or turn out, a condition called ectropion. This makes the tissue that lines the eye and part of the eyeball itself vulnerable to damage. Some children with Wiedemann-Rautenstrauch syndrome have eyelids that turn inward, which also puts the eyeball at risk from being abraded by skin and eyelashes, if the child has eyelashes.
Some children with the syndrome lack eyelashes and eyebrows and have thin hair on their scalp. In other cases, the lower eyelid covers half of the eyeball, or the child develops cataracts or a perforated cornea. Some children have eyes that are abnormally small. Their eyes may also be subject to rapid, uncontrollable horizontal movements. Many WRS patients have poor vision.
The appendages and extremities of children with Wiedemann-Rautenstrauch syndrome are also affected. Their arms and legs may be very thin but the hands and feet may be overly large. They tend to have long fingers and toes but very small or abnormally thick nails.
The joints in the shoulders, elbows and knees are rigid and thick. At the same time, the bones may be thin and subject to fracturing. The ability of the body to make cartilage and bone is impaired.
Patients with Wiedemann-Rautenstrauch syndrome are at risk for respiratory infections which may be life-threatening. Autopsies revealed that the small intestines of WRS patients weren’t connected to the backs of their abdominal walls. They also lacked the tissue that connects the transverse colon to the rest of their large intestine.
Causes
Wiedemann-Rautenstrauch syndrome is most likely caused when the child inherits two copies of an abnormal gene via autosomal recessive inheritance. This abnormal gene has to come from both parents. If the child gets a normal gene from one parent and an abnormal gene from the other, they will be an asymptomatic genetic carrier.
Diagnosis & Tests
Doctors can often diagnose Wiedemann-Rautenstrauch syndrome immediately after birth through clinical evaluations and examination of the baby. Sometimes, the doctor orders tests such as X-rays to reveal deformities in the bone structure of the face and skull and magnetic resonance imaging (MRI) scans to better see abnormal fatty deposits.
Treatment & Therapy
Children with Wiedemann-Rautenstrauch syndrome are treated according to the symptoms that they suffer from. Because of this, many of these patients require a team of specialists who treat their physical or mental disorders. For example, WRS children who have difficulty feeding themselves and suffer from malnutrition may need to be intubated so they can receive the proper nutrition. Physical therapy, speech therapy, special education, and occupational therapy may all be treatment approaches.
Prevention & Prophylaxis