Osteopathia striata-cranial sclerosis syndrome

Osteopathia striata with cranial sclerosis (OSCS), also known as osteopathia striata-cranial sclerosis syndrome, is a rare genetic skeletal disorder characterized by longitudinal striations (linear densities) visible on X-rays of the long bones and pelvis, combined with sclerosis (thickening and hardening) of the bones of the skull and face. The condition is caused by mutations in the AMER1 (WTX/FAM123B) gene located on the X chromosome, which plays a role in regulating the WNT signaling pathway important for bone development. The disease predominantly affects females, as affected males often experience severe or lethal outcomes prenatally or in early infancy. In females, clinical features are highly variable and may include macrocephaly (large head), frontal bossing, broad nasal bridge, cleft palate, hearing loss (both conductive and sensorineural), cranial nerve palsies, and characteristic facial features. The cranial sclerosis can lead to narrowing of cranial foramina, potentially compressing cranial nerves and causing complications such as facial palsy and vision problems. Some patients may also have cardiac defects, intellectual disability, and other skeletal anomalies. In severely affected males, features can include large cystic hygromas, hydrops fetalis, and intestinal or genitourinary malformations, which are frequently lethal. There is no cure for osteopathia striata with cranial sclerosis. Treatment is supportive and symptom-based, focusing on management of hearing loss (hearing aids or cochlear implants), surgical intervention for cleft palate, monitoring and potential surgical decompression of cranial nerves affected by progressive sclerosis, and management of cardiac or other associated anomalies. Regular audiological, ophthalmological, and neurological assessments are recommended. Genetic counseling is important for affected families.

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