Pascual-Castroviejo syndrome type 1

Pascual-Castroviejo syndrome type 1 is a rare, genetic, developmental defect during embryogenesis disorder characterized by facial dysmorphism (including hypertelorism, prominent nose, thin upper lip, low-set ears), intellectual disability, and growth retardation. Other features include large head circumference, failure to thrive, hypotonia, and epilepsy. It has been described in three siblings born to non-consanguineous parents. The syndrome is named after the Spanish pediatric neurologist Ignacio Pascual-Castroviejo.

Symptoms

The symptoms of Pascual-Castroviejo syndrome type 1 include facial dysmorphism, intellectual disability, and growth retardation. Other features that may be present include a large head circumference, failure to thrive, hypotonia, and epilepsy.

Causes

Pascual-Castroviejo syndrome type 1 is a genetic disorder, which means it is caused by abnormalities in the individual's genes. It has been described in three siblings born to non-consanguineous parents, suggesting that it may be inherited in an autosomal recessive manner.

Diagnosis

The diagnosis of Pascual-Castroviejo syndrome type 1 is based on the presence of characteristic clinical features. Genetic testing may be used to confirm the diagnosis.

Treatment

There is currently no cure for Pascual-Castroviejo syndrome type 1. Treatment is supportive and based on the symptoms present in each individual.

Prognosis

The prognosis for individuals with Pascual-Castroviejo syndrome type 1 varies. The severity of the condition and the presence of other health conditions will determine the life expectancy and quality of life for individuals with this condition.

See also

• Genetic disorder
• Developmental defect during embryogenesis
• Facial dysmorphism
• Intellectual disability
• Growth retardation
• Hypotonia
• Epilepsy

Pascual-Castroviejo syndrome type 1 Resources
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