Robinow syndrome, also known as fetal face syndrome, is a rare genetic disorder characterized by distinct facial features, skeletal abnormalities, and short stature. It was first described by Dr. Meinhard Robinow in 1969, hence the name.
The main symptoms of Robinow syndrome include:
- Facial abnormalities: Individuals with Robinow syndrome typically have a "fetal face" appearance, characterized by a broad forehead, a short upturned nose, wide-set eyes, and a small chin.
- Skeletal abnormalities: This condition is associated with various skeletal anomalies, such as shortening and fusion of certain bones in the spine (vertebral segmentation defects), shortened limbs, and abnormal curvature of the spine (scoliosis).
- Short stature: People with Robinow syndrome tend to have significantly shorter stature compared to average height.
- Genital abnormalities: In males, there may be underdevelopment of the external genitalia.
- Other features: Additional features may include dental problems, heart defects, kidney abnormalities, and intellectual disability (though intelligence is typically within the normal range).
Robinow syndrome can be classified into two main types: autosomal dominant Robinow syndrome (ADRS) and autosomal recessive Robinow syndrome (ARRS). ADRS is typically milder and has a later onset, while ARRS is more severe and presents earlier in infancy.
There are several synonyms or alternative names for Robinow syndrome, including:
- Fetal face syndrome
- Robinow dwarfism
- Robinow dwarfism syndrome
- Robinow-Silverman-Smith syndrome
- Robinow-Silverman-Smith type of acromesomelic dysplasia
It is important to note that while these terms are used interchangeably, they all refer to the same genetic disorder characterized by the distinctive facial features, skeletal abnormalities, and short stature seen in Robinow syndrome.