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?
Experienced in Pena-Shokeir Syndrome Type 2
Dr. Amy S. Gadowski
Internal Medicine
Experienced in Pena-Shokeir Syndrome Type 2
Dr. Amy S. Gadowski
Internal Medicine

Brattleboro Memorial Hospital

17 Belmont Ave, 
Brattleboro, VT 
 (15.8 mi)
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Amy Gadowski is an Internal Medicine provider in Brattleboro, Vermont. Dr. Gadowski and is rated as an Experienced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. Her top areas of expertise are Hypothyroidism, Obesity in Children, Type 2 Diabetes (T2D), and Folate Deficiency. Dr. Gadowski is currently accepting new patients.

Distinguished in Pena-Shokeir Syndrome Type 2
Dr. Ronald M. Lechan
Endocrinology
Distinguished in Pena-Shokeir Syndrome Type 2
Dr. Ronald M. Lechan
Endocrinology

Pratt Medical Group Inc

800 Washington St, 
Boston, MA 
 (73.8 mi)
617-636-5000
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Ronald Lechan is an Endocrinologist in Boston, Massachusetts. Dr. Lechan and is rated as a Distinguished provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. His top areas of expertise are Somatostatinoma, Pheochromocytoma, Pituitary Tumor, and Addison's Disease. Dr. Lechan is currently accepting new patients.

 
 
 
 
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Experienced in Pena-Shokeir Syndrome Type 2
Dr. Joohahn J. Kim
Internal Medicine
Experienced in Pena-Shokeir Syndrome Type 2
Dr. Joohahn J. Kim
Internal Medicine

Mary Hitchcock Memorial Hospital

100 Hitchcock Way, 
Manchester, NH 
 (43.5 mi)
603-695-2500
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Joohahn Kim is an Internal Medicine provider in Manchester, New Hampshire. Dr. Kim and is rated as an Experienced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. His top areas of expertise are Migraine, Psoriasis, High Potassium Level, and Hypothyroidism. Dr. Kim is currently accepting new patients.

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