Pena-Shokeir Syndrome Type 2 Overview

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Learn About Pena-Shokeir Syndrome Type 2

What is the definition of Pena-Shokeir Syndrome Type 2?
Cerebro-oculo-facio-skeletal (COFS) syndrome is a degenerative disorder that primarily involves the brain, eyes, and spinal cord. Affected individuals have mild to severe intellectual disability, severely reduced muscle tone (hypotonia), impaired reflexes, vision impairment, and involuntary eye movements. Children with COFS syndrome have distinctive facial features, including low-set ears, small eyes, small head size (microcephaly), and a small jaw (micrognathia). They may also have abnormalities of the skull, limbs, heart, and kidneys. Individuals with COFS syndrome are often diagnosed at birth. In many cases, the cause of the disorder is unknown. Some children with this condition have genetic changes in the ERCC1, ERCC2, ERCC5, or ERCC6 gene. COFS syndrome is inherited in an autosomal recessive manner.
What are the alternative names for Pena-Shokeir Syndrome Type 2?
  • Cerebro-oculo-facio-skeletal syndrome
  • COFS syndrome
  • Pena-Shokeir syndrome type 2
Who are the top Pena-Shokeir Syndrome Type 2 Local Doctors?
Khyati V. Kadia
Advanced in Pena-Shokeir Syndrome Type 2
Dr. Khyati V. Kadia
Family Medicine
Advanced in Pena-Shokeir Syndrome Type 2
Dr. Khyati V. Kadia
Family Medicine

UPMC Primary Care

501 Howard Avenue, 
Altoona, PA 
814-843-0515
Languages Spoken:
English, Gujarati , Hindi
See accepted insurances
Offers Telehealth

Khyati Kadia, MD, specializes in family medicine and is certified by the American Board of Family Medicine. She practices at Altoona Family Physicians and is affiliated with UPMC Altoona. She completed her residency at University of Illinois College of Medicine at Rockford and medical degree at Windsor University School of Medicine. Dr. Kadia is rated as an Advanced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. Her top areas of expertise are Kenny-Caffey Syndrome Type 2, Campomelic Dysplasia, Winchester Syndrome, and Russell-Silver Dwarfism.

Experienced in Pena-Shokeir Syndrome Type 2
Dr. Mary B. Cishek
Cardiology | Advanced Heart Failure and Transplant Cardiology
Experienced in Pena-Shokeir Syndrome Type 2
Dr. Mary B. Cishek
Cardiology | Advanced Heart Failure and Transplant Cardiology

Seton Family Of Doctors

11111 Research Blvd, Suite 300, 
Austin, TX 
844-448-8124
Languages Spoken:
English, Spanish
See accepted insurances
Accepting New Patients
Offers Telehealth

Mary Cishek is a Cardiologist and an Advanced Heart Failure and Transplant Cardiologist in Austin, Texas. Dr. Cishek is rated as an Experienced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. Her top areas of expertise are Cardiomyopathy, Dilated Cardiomyopathy (DCM), Heart Failure, Heart Transplant, and Patent Foramen Ovale Repair. Dr. Cishek is currently accepting new patients.

 
 
 
 
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Experienced in Pena-Shokeir Syndrome Type 2
Dr. Mohammad M. El Sayyad
Family Medicine
Experienced in Pena-Shokeir Syndrome Type 2
Dr. Mohammad M. El Sayyad
Family Medicine

Promedica Central Physicians

6005 Monclova Rd, Suite 320, 
Maumee, OH 
419-578-7555
Languages Spoken:
English, Arabic, Arabic - Jordanian
See accepted insurances
Accepting New Patients

Mohammad El Sayyad is a primary care provider, practicing in Family Medicine in Maumee, Ohio. Dr. El Sayyad is rated as an Experienced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. His top areas of expertise are Multisystem Inflammatory Syndrome in Children (MIS-C), COVID-19, Lung Metastases, Gastrostomy, and Endoscopy. Dr. El Sayyad is currently accepting new patients.

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