Meier-Gorlin syndrome (MGORS) is a condition characterized by short stature. It is considered a form of primordial dwarfism because of the intrauterine growth retardation. After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing patellae, small ears, and often, microcephaly. Most people with Meier-Gorlin syndrome have normal intellect. Some patients may have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, genu recurvatum, and delayed bone age. Most people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include microstomia, micrognathia, full lips, and a narrow nose with a high nasal bridge. Abnormalities in sexual development may also occur including cryptorchidism in affected males, and hypoplasia of the labia majora and small breasts in affected females. Both males and females with this condition can have sparse or absent axillary hair.
Meier-Gorlin is an autosomal recessive inherited metabolic disorder. MGORS can be caused by mutations in one of several genes that are involved in DNA replication, which include ORC1, ORC4, ORC6, CDT1, CDC45L, MCM5, and CDC6. Out of these, MGORS1 (Meier-Gorlin syndrome 1) is associated with mutations in ORC1 gene.