Toriello-Carey Syndrome
Symptoms, Doctors, Treatments, Advances & More

Toriello-Carey Syndrome Overview

Save information for later
Sign Up

Learn About Toriello-Carey Syndrome

What is the definition of Toriello-Carey Syndrome?
Toriello-Carey syndrome is a rare condition characterized by multiple congenital anomalies. Signs and symptoms can vary but may include distinctive craniofacial features, brain abnormalities, Pierre Robin sequence, swallowing difficulties, heart defects, low muscle tone (hypotonia), and moderate to severe intellectual disability. The genetic cause is not fully understood, but there is evidence it may be caused by genetic changes in one or more unidentified genes, or by a chromosome abnormality. When it is not due to a chromosome abnormality, inheritance is thought to be autosomal recessive.
What are the alternative names for Toriello-Carey Syndrome?
  • Toriello-Carey syndrome
  • Agenesis of corpus callosum with facial anomalies and Robin sequence
  • Corpus callosum agenesis facial anomalies Robin sequence
  • Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome
Who are the top Toriello-Carey Syndrome Local Doctors?
Advanced in Toriello-Carey Syndrome
Advanced in Toriello-Carey Syndrome
Referral required

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd, 
Johnson City, TN 
423-439-7320
Languages Spoken:
English
See accepted insurances
Offers Telehealth

Alvaro Russi is a Pediatrics provider practicing medicine in Johnson City, Tennessee. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Toriello-Carey Syndrome. He is also highly rated in 125 other conditions, according to our data. His clinical expertise encompasses Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication. Dr. Russi is board certified in American Board Of Pediatrics and American Board Of Medical Genetics.

Experienced in Toriello-Carey Syndrome
Dr. Donald J. Weaver
Pediatric Nephrology
Experienced in Toriello-Carey Syndrome
Dr. Donald J. Weaver
Pediatric Nephrology
Referral may be required

Atrium Health Levine Children's Nephrology

1001 Blythe Blvd., Suite C, 
Charlotte, NC 
704-381-8800
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Donald Weaver is a Pediatric Nephrologist practicing medicine in Charlotte, North Carolina. Dr. Weaver is rated as an Experienced provider by MediFind in the treatment of Toriello-Carey Syndrome. He is also highly rated in 2 other conditions, according to our data. His clinical expertise encompasses Posterior Urethral Valves, Togaviridae Disease, Feingold Syndrome, and Congenital Nephrotic Syndrome. Dr. Weaver is board certified in American Board Of Pediatrics and American Board Of Pediatrics, Pediatric Nephrology. Dr. Weaver is currently accepting new patients.

 
 
 
 
Learn about our expert tiers
Learn More
Experienced in Toriello-Carey Syndrome
Dr. Sunil Pauwaa
Advanced Heart Failure and Transplant Cardiology
Experienced in Toriello-Carey Syndrome
Dr. Sunil Pauwaa
Advanced Heart Failure and Transplant Cardiology
Referral may be required

Advocate Heart Institute

10837 S Cicero Ave, Ste 200, 
Oak Lawn, IL 
708-636-7575
Languages Spoken:
English
See accepted insurances
Offers Telehealth

Sunil Pauwaa is an Advanced Heart Failure and Transplant Cardiologist practicing medicine in Oak Lawn, Illinois. Dr. Pauwaa is rated as an Experienced provider by MediFind in the treatment of Toriello-Carey Syndrome. He is also highly rated in 9 other conditions, according to our data. His clinical expertise encompasses Heart Failure, Pulmonary Hypertension, Pulmonary Veno-Occlusive Disease, Pulmonary Edema, and Heart Transplant. Dr. Pauwaa is board certified in American Board Of Internal Medicine, Advanced Heart Failure And Transplant Cardiology.

View All Doctors
What are the latest Toriello-Carey Syndrome Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
View All Clinical Trials
Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Toriello-Carey Syndrome?
A Chinese patient with Toriello-Carey syndrome and an interstitial deletion of 3q.
A Chinese patient with Toriello-Carey syndrome and an interstitial deletion of 3q.
Journal: American journal of medical genetics. Part A
Published: May 28, 2016
Dental and dentofacial problems in a female child with Toriello-Carey -syndrome: changes in 3 years.
Dental and dentofacial problems in a female child with Toriello-Carey -syndrome: changes in 3 years.
Journal: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
Published: May 10, 2016
Tired of the same old research?
Check Latest Advances
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
Journal: American journal of medical genetics. Part A
Published: May 06, 2016
View All Latest Advances