Pena-Shokeir Syndrome Type 2
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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?
Advanced in Pena-Shokeir Syndrome Type 2
Dr. Justin J. Holschbach
Family Medicine
Advanced in Pena-Shokeir Syndrome Type 2
Dr. Justin J. Holschbach
Family Medicine

OSF Medical Group - Primary Care

210 Saint Joseph Drive, 
Bloomington, IL 
309-663-5050
Languages Spoken:
English
See accepted insurances

Justin Holschbach is a primary care provider, practicing in Family Medicine in Bloomington, Illinois. Dr. Holschbach is rated as an Advanced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. He is also highly rated in 45 other conditions, according to our data. His clinical expertise encompasses Low Sodium Level, Peptic Ulcer, Necrosis, and Colorectal Cancer. Dr. Holschbach is board certified in American Board Of Family Medicine.

Experienced in Pena-Shokeir Syndrome Type 2
Dr. James W. Shine
Family Medicine
Experienced in Pena-Shokeir Syndrome Type 2
Dr. James W. Shine
Family Medicine

BHMA Inpatient Services- JCCH

1901 S Shady St, Ste A, 
Mountain City, TN 
423-727-1103
Languages Spoken:
English
See accepted insurances
Offers Telehealth

. Dr. Shine is rated as an Experienced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. His clinical expertise encompasses Langer Mesomelic Dysplasia, Robinow Syndrome, Coffin-Siris Syndrome, and Camptodactyly Syndrome Guadalajara Type 1. Dr. Shine is board certified in  .

 
 
 
 
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Advanced in Pena-Shokeir Syndrome Type 2
Dr. Dana Fletcher
Endocrinology
Advanced in Pena-Shokeir Syndrome Type 2
Dr. Dana Fletcher
Endocrinology

Doctor's Approach Dermatology & Laser Center PC

2900 Hannah Blvd Ste 114, 
East Lansing, MI 
517-364-8080
Languages Spoken:
English
See accepted insurances

Dana Fletcher is an Endocrinologist practicing medicine in East Lansing, Michigan. Dr. Fletcher is rated as an Advanced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. She is also highly rated in 35 other conditions, according to our data. Her clinical expertise encompasses Hypothyroidism, Obesity in Children, Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), and SHORT Syndrome.

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