Pascual-Castroviejo syndrome type 1

From WikiMD's Medical Encyclopedia

(Redirected from Cerebrofaciothoracic dysplasia)

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics

Pascual-Castroviejo syndrome type 1
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[edit]

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[edit]

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[edit]

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[edit]

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

Prognosis[edit]

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[edit]

This article is a medical stub. You can help WikiMD by expanding it!
PubMed
Wikipedia
Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Ad. Transform your health with W8MD Weight Loss, Sleep & MedSpa

Tired of being overweight?

Get started with evidence based, physician-supervised

affordable GLP-1 weight loss injections

Now available in New York City and Philadelphia:

✔ Evidence-based medical weight loss ✔ Insurance-friendly visits available ✔ Same-week appointments, evenings & weekends

Learn more:

Start your transformation today with W8MD weight loss centers.

Advertise on WikiMD

WikiMD Medical Encyclopedia

Medical Disclaimer: WikiMD is for informational purposes only and is not a substitute for professional medical advice. Content may be inaccurate or outdated and should not be used for diagnosis or treatment. Always consult your healthcare provider for medical decisions. Verify information with trusted sources such as CDC.gov and NIH.gov. By using this site, you agree that WikiMD is not liable for any outcomes related to its content. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.

Retrieved from "https://wikimd.org/index.php?title=Pascual-Castroviejo_syndrome_type_1&oldid=6547114"