a skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism.
short limb skeletal dysplasia, due to a mutation in a dominant gene encoding fibroblast growth factor receptor-3 (FGFR3). Most common limb dysplasia, with shortened long bones (mainly proximal long bones) and is difficult to prenatally diagnose. Other mutaions of this gene cause milder skeletal dysplasia (hypochondroplasia) and a lethal skeletal dysplasia (thanatophoric dysplasia). (More? Musculoskeletal Abnormalities | OMIM Achondroplasia | FGFR3)
Improper development of cartilage at the ends of the long bones, resulting in a form of congenital dwarfism. A defect in most breeds and a requisite in others like Dachshunds and Basset Hounds.
Most common type of dwarf, short limbs, normal trunk, large head,depressed nasal bridge, small face, stubby hands, and lordosis. Disorder of the growth of cartilage in the long bones and skull that result in premature ossification.
an inherited problem with the growth of cartilage in the long bones and skull; characterized by short stature
A rare genetic disorder characterized by an unusually large head with a prominent forehead, a flat nasal bridge, short upper arms and legs, prominent abdomen and buttocks, and short hands with fingers that assume a “trident” or three-pronged position during extension. Individuals affected with this disease have impaired ability to form bone from cartilage.
A type of dwarfism in humans, inherited as an autosomal dominant phenotype.
Achondroplasia is a type of genetic disorder that is a common cause of dwarfism. People with this condition have short stature, usually reaching a full adult height of around 4'0" (1.2 metres).