Pascuel–Castroviejo syndrome

Pascual-Castroviejo Syndrome is a rare genetic disorder characterized by a range of symptoms and physical findings that primarily involve the skeletal system, the central nervous system, and distinctive facial features. The syndrome was first described in the medical literature by Pascual-Castroviejo et al. in the late 20th century, marking a significant contribution to the understanding of congenital syndromes affecting multiple body systems.

Symptoms and Characteristics

Pascual-Castroviejo Syndrome is known for its diverse presentation, which can include:

• Skeletal Abnormalities: Patients may present with scoliosis, craniosynostosis (premature fusion of skull bones), and various limb anomalies.
• Neurological Issues: The syndrome can affect the central nervous system, leading to developmental delays, intellectual disability, and seizures.
• Facial Features: Distinctive facial characteristics may include a high forehead, hypertelorism (widely spaced eyes), and a small jaw (micrognathia).
• Growth Deficiencies: Individuals with this syndrome often experience growth retardation, resulting in short stature.

Causes

The exact cause of Pascual-Castroviejo Syndrome remains unknown, but it is believed to have a genetic basis. The pattern of inheritance appears to be autosomal recessive, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Diagnosis

Diagnosis of Pascual-Castroviejo Syndrome is primarily based on clinical evaluation and the presence of characteristic features. Genetic testing may help in confirming the diagnosis, although the specific genes involved have not been fully identified.

Treatment

There is no cure for Pascual-Castroviejo Syndrome, and treatment is symptomatic and supportive. This may include:

• Physical therapy and orthopedic interventions for skeletal abnormalities.
• Educational and developmental support for intellectual disabilities.
• Management of seizures with antiepileptic medications.

Prognosis

The prognosis for individuals with Pascual-Castroviejo Syndrome varies depending on the severity of symptoms. Early intervention and supportive care can improve the quality of life for those affected.

See Also

• Genetic disorder
• Craniosynostosis
• Scoliosis

Pascuel–Castroviejo syndrome Resources
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