AMD is extremely rare and is inherited as an autosomal recessive genetic trait. Autosomal recessive means that two copies of an abnormal gene must be present in order for the disease to develop. This can be inherited from the parents or the gene can mutate in the person who has AMD. Pathophysiology Genetic studies indicate that the mutation at chromosome 9p13-12, for AMD Maroteaux, is a gene that codes for a protein that affects bone development, natriuretic peptide receptor B (Npr2). This is a receptor for the hormone C-type natriuretic peptide which is a hormone that is essential for bone growth. AMD Grebe<unk>  has a gene located at chromosome 20q11.2 This chromosome codes for a protein known as growth and development factor-5 (GDF5). AMD with genital anomalies has a gene located at chromosome 4q23-24; this codes for a protein known as a bone morphogenetic protein receptor, type 1B.Genetic diseases are determined by the combination of genes for a certain trait that is on the chromosomes received from the mother and father. Dominant genetic disorders happen when a single copy of an abnormal gene is needed to cause a certain disease. The abnormal gene can be inherited from either parent or result from a gene mutation.
Acromesomelic dysplasia
Campomelic dysplasia
Hereditary coproporphyria
Langer mesomelic dysplasia
Rhizomelic chondrodysplasia punctata
Mondini dysplasia
Brill–Zinsser disease
Degos disease