Verloove–Vanhorick–Brubakk syndrome

Verloove–Vanhorick–Brubakk Syndrome

Verloove–Vanhorick–Brubakk syndrome is a rare genetic disorder characterized by a combination of congenital anomalies and developmental delays. It was first described by Verloove, Vanhorick, and Brubakk in the late 20th century. The syndrome is known for its distinct clinical features, which include craniofacial abnormalities, limb malformations, and neurological impairments.

Clinical Features

Patients with Verloove–Vanhorick–Brubakk syndrome typically present with a variety of symptoms that can vary in severity. Common clinical features include:

• Craniofacial Abnormalities: These may include microcephaly, a prominent forehead, and hypertelorism (increased distance between the eyes).
• Limb Malformations: Patients may exhibit syndactyly (fusion of fingers or toes), polydactyly (extra fingers or toes), or limb length discrepancies.
• Neurological Impairments: Developmental delays, intellectual disability, and seizures are frequently observed.
• Cardiac Anomalies: Some individuals may have congenital heart defects, such as ventricular septal defects or atrial septal defects.

Genetics

The genetic basis of Verloove–Vanhorick–Brubakk syndrome is not fully understood, but it is believed to be inherited in an autosomal dominant pattern. Genetic testing and family studies are ongoing to identify the specific gene mutations responsible for the syndrome.

Diagnosis

Diagnosis of Verloove–Vanhorick–Brubakk syndrome is primarily clinical, based on the presence of characteristic features. Genetic testing may be used to confirm the diagnosis and to differentiate it from other syndromes with overlapping symptoms.

Management

Management of Verloove–Vanhorick–Brubakk syndrome is symptomatic and supportive. It may involve:

• Multidisciplinary Care: Involving pediatricians, neurologists, cardiologists, and orthopedic specialists.
• Developmental Support: Early intervention programs and special education services to address developmental delays.
• Surgical Interventions: To correct limb malformations or cardiac defects, if necessary.

Prognosis

The prognosis for individuals with Verloove–Vanhorick–Brubakk syndrome varies depending on the severity of symptoms and the presence of associated complications. Early diagnosis and intervention can improve outcomes and quality of life.

Also see

• Genetic disorders
• Congenital anomalies
• Developmental delay
• Syndactyly
• Intellectual disability

NIH genetic and rare disease info

• NIH info on Verloove–Vanhorick–Brubakk syndrome

Verloove–Vanhorick–Brubakk syndrome is a rare disease.

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