Choanal atresia deafness cardiac defects dysmorphia

Choanal Atresia Deafness Cardiac Defects Dysmorphia (CADCD) is a rare congenital condition characterized by a combination of anomalies including choanal atresia, deafness, cardiac defects, and distinct facial dysmorphia. This condition is part of a broader category of disorders known as CHARGE syndrome, which stands for Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital abnormality, and Ear abnormalities. However, CADCD focuses specifically on the combination of the four features mentioned in its name.

Symptoms and Diagnosis

The primary features of CADCD include:

• Choanal Atresia: A blockage of the nasal passage that affects breathing, especially in newborns. It can be unilateral or bilateral and is caused by bony or membranous obstruction.
• Deafness: Hearing impairment in CADCD can range from mild to profound and is often sensorineural in nature.
• Cardiac Defects: Various heart anomalies can be present, including septal defects, tetralogy of Fallot, and others that affect the structure and function of the heart.
• Dysmorphia: Distinct facial features may include micrognathia (small jaw), cleft palate, and abnormally shaped ears.

Diagnosis of CADCD involves a combination of physical examination, imaging studies such as MRI or CT scans to confirm choanal atresia, audiological tests for hearing assessment, and echocardiography to identify cardiac defects. Genetic testing may also be conducted to rule out or confirm related syndromes like CHARGE syndrome.

Treatment

Treatment for CADCD is multidisciplinary and depends on the severity and combination of symptoms present in the individual. It may include:

• Surgical intervention: To correct choanal atresia and some types of cardiac defects.
• Hearing aids or cochlear implants: For management of deafness.
• Cardiac surgery: For correction of heart defects.
• Supportive therapies: Such as speech therapy, occupational therapy, and special education services to address developmental delays and other complications.

Prognosis

The prognosis for individuals with CADCD varies widely and depends on the severity of the defects and the success of interventions. Early diagnosis and treatment can significantly improve the quality of life for affected individuals.

Epidemiology

CADCD is extremely rare, and its exact prevalence is unknown. It is considered a subset of the broader CHARGE syndrome, which has an estimated prevalence of 1 in 10,000 to 1 in 15,000 births.