This is a rare presumably inherited condition first described in the latter part of the 20th century. Abnormal development is manifest throughout the body, especially in the face. The acronym is derived from the major features: Growth retardation, Alopecia (absence of hair), Pseudoanodontia (failure of teeth to erupt), and Optic atrophy
The characteristic facial appearance and the absence of hair suggest the diagnosis soon after birth. Bone growth is retarded and short stature is the result. The brow is prominent (bossing), the middle portion of the face fails to develop normally (midface hypoplasia), and the lower jaw is often short (micrognathia). The permanent teeth fail to erupt. The chest and vertebrae are often malformed. Generalized psychomotor retardation soon becomes evident and mental functioning is usually subnormal.
The eyes are nearly always abnormal. Atrophy (degeneration) of the optic nerve connecting the eye to the brain is often but not always present. Some individuals have glaucoma while others have abnormal curvature of the cornea (windshield of the eye). Nothing is known about the amount of vision present.
There seems to be an unusual susceptibility to infections of the respiratory tract.
This is presumed to be an autosomal recessive condition since both sexes are affected and many parents are related to each other. Following the birth of an affected child, parents can expect that each additional child has a 1 in 4 risk of inheriting this condition.
However, no responsible gene mutation has yet been identified.
There is no test available to diagnose this condition. Pediatricians, medical geneticists, and ophthalmologists would collaborate to diagnosis GAPO syndrome. An insufficient number of individuals have been studied to know the full range of clinical manifestations. The most serious threats to health are infections of the respiratory tract such as pneumonia, and bronchial disease. Prompt treatment of colds and the flu is important.