SNP Shot: Genomic Insights

Cerebro-facio-thoracic dysplasia is a rare disorder impacting the development of the brain (cerebro), face (facio), and torso (thoracic). This abnormal development (dysplasia) results in key characteristics, including significant intellectual disability, distinct facial features, and deformities of the ribs and spinal bones (vertebrae).

Besides intellectual disability, individuals with cerebro-facio-thoracic dysplasia experience delays in speech and motor skills, and some may never fully develop these abilities. Approximately 25% of those affected never learn to speak, and nearly 50% are unable to walk. Some infants experience weak muscle tone (hypotonia) and feeding difficulties. Neurodevelopmental issues like anxiety, autism spectrum disorder, or self-injuring behaviors can occur, although many individuals with this condition are known for being friendly and good-natured.

Common distinctive facial features in cerebro-facio-thoracic dysplasia include a wide, short skull (brachycephaly); prominent or fused eyebrows (synophrys); widely spaced eyes (hypertelorism); a broad nasal bridge; low-set ears; a Cupid's bow upper lip; and small teeth (microdontia). Some individuals may also exhibit gum overgrowth (gingival hyperplasia), a cleft palate, or a cleft lip.

Bone development problems in the torso often lead to abnormalities like fused ribs or abnormally shaped ribs with two prongs at one end (bifid ribs). Scoliosis, an abnormal curvature of the spine, is common due to malformed vertebrae; some vertebrae may also be fused. The shoulder blades can also be affected.

A variety of other features can manifest in cerebro-facio-thoracic dysplasia, including abnormalities affecting the eyes, skin, or hair. Heart defects, digestive issues, or genitourinary problems (such as kidney or reproductive organ abnormalities) may also occur. Bone or joint abnormalities in other areas of the body are also possible.

Inheritance:

The inheritance pattern is autosomal recessive, meaning both copies of the responsible gene in each cell must have mutations for the condition to develop. Parents of an individual with this condition each carry one copy of the mutated gene but typically do not exhibit any symptoms of the disorder.