Collins–Pope syndrome

Collins–Pope Syndrome

Diagram of autosomal dominant inheritance

Collins–Pope Syndrome is a rare genetic disorder characterized by a combination of distinctive facial features, skeletal abnormalities, and other systemic manifestations. It is inherited in an autosomal dominant pattern, meaning that a single copy of the altered gene in each cell is sufficient to cause the disorder.

Clinical Features

Individuals with Collins–Pope Syndrome typically present with a range of clinical features that may vary in severity. Common characteristics include:

• Craniofacial Abnormalities: These may include micrognathia (a small jaw), cleft palate, and distinctive facial features such as a broad nasal bridge and hypertelorism (wide-set eyes).
• Skeletal Anomalies: Affected individuals may have scoliosis, limb length discrepancies, and joint hypermobility.
• Developmental Delays: Some patients may experience delays in reaching developmental milestones, although intelligence is usually within the normal range.
• Other Features: Additional features can include hearing loss, cardiac anomalies, and renal abnormalities.

Genetics

Collins–Pope Syndrome is caused by mutations in a specific gene, which has yet to be definitively identified. The disorder follows an autosomal dominant inheritance pattern, which means that an affected individual has a 50% chance of passing the condition on to their offspring.

Diagnosis

Diagnosis of Collins–Pope Syndrome is primarily clinical, based on the presence of characteristic features. Genetic testing may be used to confirm the diagnosis and to identify the specific mutation involved. Prenatal diagnosis is possible if the mutation in the family is known.

Management

Management of Collins–Pope Syndrome is symptomatic and supportive. It may involve:

• Surgical Interventions: To correct craniofacial and skeletal abnormalities.
• Therapies: Such as physical therapy and speech therapy to address developmental delays and improve functional outcomes.
• Regular Monitoring: For potential complications such as cardiac or renal issues.

Prognosis

The prognosis for individuals with Collins–Pope Syndrome varies depending on the severity of the symptoms and the presence of associated complications. With appropriate management, many individuals can lead relatively normal lives.

Related Pages

• Autosomal dominant disorder
• Craniofacial abnormalities
• Genetic counseling