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?
Experienced in Toriello-Carey Syndrome
Experienced in Toriello-Carey Syndrome
Referral may be required
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Indian River Health Services Inc

3555 10th Ct, Suite 200a, 
Vero Beach, FL 
772-563-4673
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Jonathan Braue is a Dermatologist practicing medicine in Vero Beach, Florida. Dr. Braue is rated as an Experienced provider by MediFind in the treatment of Toriello-Carey Syndrome. He is also highly rated in 56 other conditions, according to our data. His clinical expertise encompasses Sunburn, Actinic Keratosis, Warts, and Seborrheic Keratosis. Dr. Braue is board certified in American Board Of Dermatology, 2019. Dr. Braue is currently accepting new patients.

Experienced in Toriello-Carey Syndrome
Dr. Alan B. Chelius
Family Medicine
Experienced in Toriello-Carey Syndrome
Dr. Alan B. Chelius
Family Medicine
Before you request

Reading Hospital

420 South 5th Avenue, 
West Reading, PA 
484-628-8000
Languages Spoken:
English
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Accepting New Patients

Alan Chelius is a primary care provider, practicing in Family Medicine in West Reading, Pennsylvania. Dr. Chelius is rated as an Experienced provider by MediFind in the treatment of Toriello-Carey Syndrome. He is also highly rated in 5 other conditions, according to our data. His clinical expertise encompasses Glucocorticoid-Remediable Aldosteronism, Hypertension, Familial Hypertension, and Infant Hyperglycemia. Dr. Chelius is board certified in American Board Of Family Medicine. Dr. Chelius is currently accepting new patients.

 
 
 
 
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Experienced in Toriello-Carey Syndrome
Dr. Samantha N. Kiefer
Family Medicine
Experienced in Toriello-Carey Syndrome
Dr. Samantha N. Kiefer
Family Medicine
Before you request

University Hospitals Coordinated Care

3605 Warrensville Center Rd, 
Beachwood, OH 
440-599-7466
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Samantha Kiefer is a primary care provider, practicing in Family Medicine in Beachwood, Ohio. Dr. Kiefer is rated as an Experienced provider by MediFind in the treatment of Toriello-Carey Syndrome. She is also highly rated in 9 other conditions, according to our data. Her clinical expertise encompasses Hypothyroidism, Obesity in Children, Maturity Onset Diabetes of the Young, and High Cholesterol. Dr. Kiefer is currently accepting new patients.

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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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