Toriello-Carey Syndrome
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Toriello-Carey Syndrome Overview

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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
Dr. Alvaro H. Russi
Pediatrics
Advanced in Toriello-Carey Syndrome
Dr. Alvaro H. Russi
Pediatrics

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd, 
Johnson City, TN 
423-439-7320
Languages Spoken:
English
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. Dr. Russi is rated as an Advanced provider by MediFind in the treatment of Toriello-Carey Syndrome. His top areas of expertise are Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication.

Jacob C. Hartz
Experienced in Toriello-Carey Syndrome
Dr. Jacob C. Hartz
Pediatrics | Pediatric Cardiology
Experienced in Toriello-Carey Syndrome
Dr. Jacob C. Hartz
Pediatrics | Pediatric Cardiology

Atrium Health Levine Children's HEARTest Yard Congenital Heart Center

1001 Blythe Blvd., Suite 500, 
Charlotte, NC 
704-373-1813
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Jacob Hartz is a Pediatrics specialist and a Pediatric Cardiologist in Charlotte, North Carolina. Dr. Hartz is rated as an Experienced provider by MediFind in the treatment of Toriello-Carey Syndrome. His top areas of expertise are Homozygous Familial Hypercholesterolemia (HoFH), High Cholesterol, Defective Apolipoprotein B-100, Familial Hypertriglyceridemia, and Pacemaker Implantation. Dr. Hartz is currently accepting new patients.

 
 
 
 
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Joseph J. Melvin
Experienced in Toriello-Carey Syndrome
Dr. Joseph J. Melvin
Neurology
Experienced in Toriello-Carey Syndrome
Dr. Joseph J. Melvin
Neurology

St. Christopher's Pediatric Associates Neurology - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
215-427-5470
Languages Spoken:
English
See accepted insurances

. Dr. Melvin is rated as an Experienced provider by MediFind in the treatment of Toriello-Carey Syndrome. His top areas of expertise are West Syndrome, Generalized Tonic-Clonic Seizure, Phenylketonuria (PKU), and Seizures.

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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
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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
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