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?
James W. Shine
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
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Offers Telehealth

. Dr. Shine is rated as an Experienced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. His top areas of expertise are Osteoglophonic Dysplasia, Mulibrey Nanism, Wiedemann-Steiner Syndrome, and Dubowitz Syndrome.

Dana Fletcher
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
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Dana Fletcher is an Endocrinologist in East Lansing, Michigan. Dr. Fletcher is rated as an Advanced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. Her top areas of expertise are Hypothyroidism, Obesity in Children, Cornelia De Lange Syndrome, and Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1).

 
 
 
 
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Advanced in Pena-Shokeir Syndrome Type 2
Dr. Gilbert Fareau
Endocrinology
Advanced in Pena-Shokeir Syndrome Type 2
Dr. Gilbert Fareau
Endocrinology

Clinical Cancer Center-Froedtert Hospital

8800 W Doyne Ave, 
Milwaukee, WI 
414-805-0505
Languages Spoken:
English
See accepted insurances
Offers Telehealth

Gilbert Fareau is an Endocrinologist in Milwaukee, Wisconsin. Dr. Fareau is rated as an Advanced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. His top areas of expertise are Thyroid Cancer, Papillary Thyroid Cancer, Medullary Thyroid Carcinoma, Anaplastic Thyroid Cancer, and Thyroidectomy.

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