These may include prominent forehead, large eyes with drooping lids, broad nasal bridge, and facial assymetries. Facial characteristics can vary widely in expression, such that facial features are not necessarily considered as a major diagnostic indicator. Physically, children with CHARGE are most often small in stature and appear young into teenage and adult years due to growth hormone insufficiency. Due to low muscle tome, gross and fine motor skills are often delayed. Children may also have kidney and genital/urinary malformations. Cleft lip and/or palate may be present in up to 20% of cases. These are present in up to 75% of cases and most often must be corrected soon after birth. Other common features include complex heart defects such as Tetralogy of Fallot. Changes in the semi-circular canals can also affect balance and sensory regulation. Malformed or absent ossicles result in conductive hearing loss, while cochlear defects result in sensorineural loss, combining in typical severe to profound mixed hearing loss. Ear malformations: Features include a “floppy,” assymetrical pinna with decreased folds.Cranial nerve involvement: I, IX, X and VII are frequently affected, resulting in reduced or absent sense of smell, dysphagia and aspiration, and varying degrees of facial paralysis.These contribute to respiratory difficulties, feeding/swallowing difficulty, and changes in voice and resonance. Choanal malformations: Passages leading from the nose to the throat are narrowed or blocked by bony formations or membranes.Ocular coloboma: a cleft-like malformation of the eye, which can affect one or more structures and results in significant vision loss but not always blindness.Early and ongoing intervention by speech-language pathologists and other members of a multi-disciplinary care team is critical in achieving best outcomes for children affected by CHARGE.Ĭardinal features of CHARGE Syndrome include: Characteristic hearing and vision impairments also contribute to delays in development. ![]() ![]() Respiratory issues and complex cardiac defects often require early and frequent hospitalization and surgical intervention. CHARGE affects approximately 1 in every 9 to 10,000 live births, worldwide. Today’s guest post on genetic syndromes comes from Rebecca Freeh Thornburg, who is contributing on CHARGE Syndrome.ĬHARGE Syndrome is an extremely complex genetic condition encompassing anomalies of multiple systems. Freebies Smart Speech Therapy Freebies!Įarn 10 Reward Points by commenting the blog post.
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