Pascual-Castroviejo syndrome type 1

Pascual-Castroviejo syndrome type 1 is a rare autosomal recessive condition characterized by unusual facial features, cognitive impairment and skeletal differences. The face may show a short, broad head, a low hairline, narrow forehead, bushy eyebrows that meet in the middle, widely spaced eyes, drooping eyelids, a broad nose and sometimes cleft lip and palate. Skeletal findings include abnormalities of the upper thoracic vertebrae and ribs, joint hypermobility and clubfoot, while brain findings can include underdevelopment of the corpus callosum and cerebellar vermis and a Chiari I malformation. The disease is caused by mutations in the TMCO1 gene on chromosome 1. No specific treatment is known, though surgery can help with the cleft lip and palate. About twenty cases have been reported worldwide, all in children, and the condition was first described in 1975.