Winter–Shortland–Temple syndrome

Winter–Shortland–Temple Syndrome

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

Clinical Features

Individuals with Winter–Shortland–Temple syndrome typically present with a range of clinical features, which may include:

• Craniofacial Dysmorphism: Patients often exhibit distinctive facial features such as a broad forehead, hypertelorism (widely spaced eyes), and a flat nasal bridge.
• Developmental Delay: Affected individuals may experience delays in reaching developmental milestones, including speech and motor skills.
• Growth Abnormalities: Some patients may have short stature or other growth-related issues.
• Neurological Manifestations: Seizures and other neurological abnormalities may be present.
• Other Anomalies: Additional features can include cardiac defects, skeletal anomalies, and genitourinary malformations.

Genetics

Winter–Shortland–Temple syndrome is believed to be caused by mutations in a specific gene, although the exact genetic etiology is not fully understood. The inheritance pattern is typically autosomal dominant, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder.

Diagnosis

Diagnosis of Winter–Shortland–Temple syndrome is primarily clinical, based on the characteristic features observed in the patient. Genetic testing can be used to confirm the diagnosis by identifying mutations in the associated gene.

Management

Management of Winter–Shortland–Temple syndrome is symptomatic and supportive. It may involve:

• Developmental Support: Early intervention programs, including physical, occupational, and speech therapy, can help address developmental delays.
• Medical Management: Treatment of seizures and other medical issues as they arise.
• Regular Monitoring: Ongoing assessment by a multidisciplinary team to monitor growth, development, and the emergence of new symptoms.

Prognosis

The prognosis for individuals with Winter–Shortland–Temple syndrome varies depending on the severity of symptoms and the presence of associated complications. With appropriate management, many individuals can lead fulfilling lives.

Also see

• Genetic disorders
• Developmental delay
• Craniofacial dysmorphism
• Seizure disorders

NIH genetic and rare disease info

• NIH info on Winter–Shortland–Temple syndrome

Winter–Shortland–Temple syndrome is a rare disease.

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