These are the symptoms I recognize as trisomy 18
Edwards syndrome is characterized by a complex of multiple malformations and disabilities. These can be of varying degrees and do not necessarily all occur in every affected infant. Typical is a so-called flexion contracture of the fingers: the fingers are bent and are held in a spasmodic position.
The little finger and index finger are cramped over the middle and ring finger. Also typical is a small size and low birth weight of the newborn, as well as malformations in the head and face area. These include the following abnormalities: Furthermore there are often organ malformations.
Predominantly heart defects, so-called diaphragmatic hernias, kidney malformations or malformations of the urinary tract occur. The most common heart defects are a ventricular septal defect, atrial septal defect or the tetralogy of Fallot. So-called cradle-skid feet frequently occur on the lower extremity.
This is a strong outward curvature of the sole of the foot, reminiscent of the shape of a child’s cradle. In the chest area, the sternum is often very short in relation to the body. Furthermore, there are many different and strong mental handicaps.
- So-called faunears. Ears that start deep in the face and are dysmorphically shaped upwards.
- A long, narrow head with a large back of the head.
- Cleft lips and palate.
- A conspicuously small chin, lying in the back, a small mouth.
- Only a narrow gap between upper and lower eyelid.
- A high and wide front.
Therapy
Edwards syndrome cannot be cured today. This means that only the symptoms can be treated, but not prevented. The therapy depends on the malformations and symptoms that have occurred. Possible therapies are, for example, the operation of a heart defect, ventilation in case of insufficient lung development or feeding via tube if there are problems with food intake. Through the treatments we try to improve the quality of life of the patients as much as possible and to replace the organ functions as far as possible.
