Robinow syndrome- autosomal recessive
Overview
A rare genetic disorder characterized by a flat face, short forearms, vertebral anomalies and hypoplastic genitalia.
Symptoms
* Vertebral anomalies * Short stature * Large head * Large anterior fontanel * Frontal bossing
Causes
Robinow syndrome has autosomal dominant inheritance; in other cases, the disorder may have an autosomal recessive mode of inheritance. According to the medical literature, individuals with the recessive form of Robinow syndrome may have more numerous abnormalities of the ribs and the bones of the spinal column (vertebrae) than in the dominant form of the disorder. In addition, the symptoms and physical findings associated with the recessive form tend to be more severe.