Cerebrofaciothoracic dysplasia

Pascual-Castroviejo syndrome type 1 is a rare autosomal recessive condition characterized by facial dysmorphism, cognitive impairment and skeletal anomalies. Signs and symptoms These can be divided into four areas Facial features Brachycephaly Low hairline Narrow forehead Bushy eyebrows Synophrys Hypertelorism Ptosis Broad nose Wide philtrum Triangular shaped mouth Maxillary hypoplasia Cleft lip and palate Small conical teeth Short neck Skeletal abnormalities Abnormalities of the upper thoracic vertebrae and ribs Hypermobility Talipes (clubfoot) Central nervous system Hypoplasia of the corpus callosum and cerebellar vermis Cognitive impairment Chiari I malformation Optic nerve colobomas Grey matter hypodensity Other Hypothyroidism Genetics This disease is caused by mutations in the transmembrane and coiled-coil domain-containing protein 1 (TMCO1) on the long arm of chromosome 1. [Source: Wikipedia ]