This name has been applied to a small number of individuals with a combination of findings that may or may represent a unique condition. The title is descriptive only and refers to a specific deformity of the cornea (windshield of the eye).
The cornea has an indentation on the posterior surface and the overlying area is scarred and opaque. Growth delay is common and many are short in stature with short fingers and limbs. The neck is often short as well and the hairline in back is low. Developmental delays and mental retardation are common. Cleft lip and palate can be present and scoliosis sometimes develops as a result of vertebral anomalies.
The etiology of this condition is unknown but the rare familial cases reported suggest autosomal recessive inheritance. No gene mutation has been found.
The diagnosis is based on a collaborative effort by ophthalmologists, pediatricians and orthopedists. No information on longevity is available but the combination of anomalies requires supportive care for patients. Surgical repair may be beneficial for various bony defects such as scoliosis and clefting abnormalities.