Pascual-Castroviejo syndrome type 1

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Pascual-Castroviejo syndrome type 1
File:Autosomal recessive - en.svg
Synonyms
Pronounce
Specialty	Medical genetics
Symptoms	Craniosynostosis, cerebellar ataxia, seizures, intellectual disability
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	Other craniosynostosis syndromes
Prevention
Treatment	Symptomatic treatment, surgery for craniosynostosis
Medication	Anticonvulsants for seizures
Prognosis	Variable, depends on severity of symptoms
Frequency	Rare
Deaths

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