Kennerknecht–Sorgo–Oberhoffer syndrome

Kennerknecht–Sorgo–Oberhoffer Syndrome

Kennerknecht–Sorgo–Oberhoffer syndrome is a rare genetic disorder characterized by a combination of distinctive facial features, developmental delays, and other systemic anomalies. This syndrome is named after the researchers who first described it in the medical literature.

Clinical Features

Individuals with Kennerknecht–Sorgo–Oberhoffer syndrome typically present with a range of clinical features that may include:

• Facial Dysmorphism: Patients often exhibit distinctive facial features such as a broad forehead, hypertelorism (increased distance between the eyes), and a flat nasal bridge.
• Developmental Delays: Affected individuals may experience delays in reaching developmental milestones, including speech and motor skills.
• Neurological Anomalies: Some patients may have neurological issues such as seizures or hypotonia (reduced muscle tone).
• Cardiac Defects: Congenital heart defects may be present in some cases.
• Other Anomalies: Additional features may include skeletal abnormalities, renal anomalies, and hearing loss.

Genetics

Kennerknecht–Sorgo–Oberhoffer syndrome is believed to be inherited in an autosomal dominant pattern, although the exact genetic mutation responsible for the syndrome has not been fully elucidated. Genetic counseling is recommended for affected families.

Diagnosis

Diagnosis of Kennerknecht–Sorgo–Oberhoffer syndrome is primarily clinical, based on the characteristic features and family history. Genetic testing may be utilized to rule out other syndromes with overlapping features.

Management

Management of Kennerknecht–Sorgo–Oberhoffer syndrome is symptomatic and supportive. This may include:

• Developmental Support: Early intervention programs and special education services to address developmental delays.
• Medical Management: Treatment of seizures, cardiac defects, and other medical issues as they arise.
• Multidisciplinary Approach: Involvement of a team of specialists, including pediatricians, neurologists, cardiologists, and geneticists, to provide comprehensive care.

Prognosis

The prognosis for individuals with Kennerknecht–Sorgo–Oberhoffer syndrome varies depending on the severity of symptoms and associated anomalies. Early diagnosis and intervention can improve outcomes for affected individuals.

Also see

• Genetic disorders
• Developmental delay
• Congenital heart defect
• Facial dysmorphism

NIH genetic and rare disease info

• NIH info on Kennerknecht–Sorgo–Oberhoffer syndrome

Kennerknecht–Sorgo–Oberhoffer syndrome is a rare disease.

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