Langer-Giedion syndrome
What are the causes?
LGS is caused by a small deletion of chromosomal material. A chromosome is a thread-like structure which is present in the nucleus of all body cells. The chromosomes carry the genes which are the instructions about how to make a new baby from a sperm and an egg. Genes are 'strung' along chromosomes rather like beads are strung along a necklace. In LGS a small piece of the 8th chromosome is missing (or deleted) comprising a number of genes. The loss of these genes is responsible for some of the overall characteristics of LGS.
What are the symptoms?
| Inheritance patterns and prenatal diagnosis ![]()