Cerebro Facio Thoracic Dysplasia

Overview

Type of disease: Rare conditions

Cerebro Facio Thoracic Dysplasia, also known as Pascual-Castroviejo syndrome type 1, is a rare set of birth defects, or a syndrome. This syndrome is characterized by facial abnormalities, intellectual disabilities, and costovertebral (joints that connect the ribs to the spine) abnormalities. Facial abnormalities may include: flat head syndrome (brachycephaly), wide set eyes (hypertelorism), broad nasal bridge, triangular shaped mouth, large space between the nose and mouth, or undersized jaw (micrognathia). Costovertebral abnormalities are always present and may include: short or fused ribs, and misshaped vertebrae or ribs. The level of intellectual deficit varies case-to-case, and doctors can seek help from various therapists and community services to provide support and care for families affected by intellectual disability. Physical examinations and ultrasounds can diagnose this syndrome. Roughly 13 cases have been reported, and this syndrome is believed to be autosomal recessive, which means an individual must have two copies of the changed gene that causes the condition. A person with one changed gene would be a carrier of the condition but will not have any symptoms. If both parents are carriers, their children have a one in four chance of having the disease.

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