This condition is one of a group of disorders sometimes called short rib-polydactyly syndrome. This type was named after Dr. Frank Majewski, a German pediatrician who first reported it in 1971.
Congenital abnormalities occur in multiple organ systems including the skeleton, heart, liver, kidneys, liver, eyes, genitalia, intestines, and pancreas. The condition is diagnosable at birth from the obvious short stature (involving the limbs primarily) and the presence of extra fingers and toes. A cleft lip and/or palate may be obvious. The chest is narrow due to the shortened ribs which together with underdevelopment of the lungs cause breathing difficulties from the start. The intestines are often underdeveloped as well and the genitalia may be ambiguous. Kidney function is compromised by the presence of multiple cysts.
This is an autosomal recessive disorder that results from the presence of two copies of a gene change (mutation). Parents, who are clinically normal, each have only one copy but they can expect on average that one out of four of their children will have this disorder.
A pediatrician is likely to suspect the diagnosis at birth but will usually consult with other specialists for confirmation. Because of the extensive nature of the disorder and the severe damage seen in multiple organ systems, longevity is limited and most neonates do not survive beyond infancy.