Dec 22, 2009

Encyclopedia of Genetic Disorders | Robinow syndrome

Definition

Robinow syndrome encompasses two different hereditary disorders, both rare, with a similar pattern of physical abnormalities. Typical features of these conditions include mild to moderate short stature, distinctive facial features, skeletal abnormalities, and abnormal development of the genitalia.

Description

A family that included several individuals with a characteristic pattern of facial features, accompanied by short stature (dwarfism), skeletal abnormalities, and underdevelopment (hypoplasia) of the external genitalia (sex organs) was first described in 1969 by Dr. Meinhard Robinow. He named the condition "Fetal face syndrome," because the facial features are similar to those of a normal fetus. Only later was Dr. Robinow's name used to identify the syndrome. Other names for...

[The entire page is 1548 words long]

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