*In affected children studied, the first signs of<unk>  begin during gestation: 80% of mothers have polyhydramnios, extra amniotic fluid around the affected baby. *The majority of mothers also have preterm labor starting anywhere from 25–38 weeks gestation. The brain is large and malformed in all affected children. *MRI studies show extra fluid around the brain, or “hydrocephalus.” *The nerve cells are not positioned properly and probably do not make normal connections with other nerve cells. As a result, seizures begin early in life and are often difficult to treat. *Mental development is severely delayed. *The muscles are thin and weaker than normal. The combination of low muscle tone and abnormal connective tissue results in very flexible joints and allows children to twist themselves into unusual<unk> -like” postures. *Like other muscles of the body, those that control the eyes are also weak, and about 40% of affected children have strabismus or “lazy eye.” *Approximately one third of the affected children have anatomical heart defects. The most common is atrial septal defect--a hole between the two upper chambers of the heart. This defect typically does not cause symptoms of heart failure early in life, but can become problematic later in childhood. *In 20-30% of affected children, there is a buildup of calcium deposits in the kidneys, which then lose the ability to conserve water for the body. This condition, called diabetes insipidus, causes children to urinate frequently.
Pretzel syndrome
Rapunzel syndrome
Nezelof syndrome
Irlen syndrome
Van der Woude syndrome
Van Wyk and Grumbach syndrome
Fryns-Aftimos syndrome
Wildervanck syndrome