Osteopathia Striata with Cranial Sclerosis is a rare bone dysplasia characterized by linear striations mainly affecting the metaphyses of the long bones and the pelvis, in combination with macrocephaly and cranial sclerosis. Apart from these cardinal signs of the condition, there are several other features that show a wide amount of variability between patients. Facial features, such as hypertelorism, flat nasal bridge and nasal obstruction, frontal bossing, large head, hypoplastic maxilla, palate anomalies may be present. Other clinical features that may be present include hearing deficit, developmental delay, intellectual impairment, vertebral anomalies, particularly scoliosis and spondylolisthesis, cranial nerve palsies and nervous system malformations, and cardiac malformations, including VSD, and aortic stenosis. The vertical striations first begin to appear between 5-months and 6-years of age.

Diagnosis is based on clinical examinations, and supported by radiological examination. Since macrocephaly is a distinct feature of the condition, severe cases can be diagnosed by prenatal ultrasound examination. The striations themselves are of little clinical significance. However, the cranial sclerosis, and vertebral and cardiac anomalies can be debilitating. There is no cure for the condition. Only supportive management is available, aiming at providing symptomatic management of complications.

Mutations in the Wilms Tumor Gene (WTX) have been found to cause OSCS. Since the WTX gene is located on the X chromosome, the condition follows an X-linked dominant mode of transmission with complete penetrance and variable expressivity. The WTX gene is a repressor of WNT signaling, which in turn plays a key role in cell-cell interactions during embryogenesis, and in the regeneration of tissues in adult organisms. It is also known to play an anabolic role in bone formation by osteoblasts, and perturbation of this pathway is known to be involved in other sclerosing bone dysplasias.