Glossary
Autosomal dominant: There are 2 copies (paternal and maternal) of genes on the 22 pairs of chromosomes or autosomes in each individual. When one gene copy is mutated or missing and affects the normal development of the individual, such a gene is called an autosomal dominant gene, and the condition is called an autosomal dominant disorder.Craniosynostosis: Skull bones are fused prematurely.
Syndactyly: Fused or webbed fingers or toes.
Brachydactyly: Digits (fingers or toes) are abnormally short.
