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?

Elite in Pena-Shokeir Syndrome Type 2

Vincent Laugel

Elite in Pena-Shokeir Syndrome Type 2

Vincent Laugel

Referral may be required

Strasbourg, FR

Vincent Laugel practices practicing medicine in Strasbourg, France. Mr. Laugel is rated as an Elite expert by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Cockayne Syndrome Type 1, Cockayne Syndrome, Pena-Shokeir Syndrome Type 2, Cockayne Syndrome Type 2, and Gastrostomy.

Advanced in Pena-Shokeir Syndrome Type 2

Dr. Jonathan C. Olegario

Internal Medicine

Advanced in Pena-Shokeir Syndrome Type 2

Dr. Jonathan C. Olegario

Internal Medicine

Access Health & Avera Medical Group Family Health Center — Mitchell

1900 Grassland Dr, Suite 103,

Mitchell, SD

605-995-7070

Languages Spoken:

English, Filipino

See accepted insurances

Accepting New Patients

Jonathan Olegario is a primary care provider, practicing in Internal Medicine in Mitchell, South Dakota. Dr. Olegario is rated as an Advanced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. He is also highly rated in 51 other conditions, according to our data. His clinical expertise encompasses High Cholesterol, Sitosterolemia, Renovascular Hypertension, and Chronic Cough. Dr. Olegario is board certified in American Board Of Internal Medicine. Dr. Olegario is currently accepting new patients.

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Advanced in Pena-Shokeir Syndrome Type 2

Dr. Gilbert G. Fareau

Endocrinology

Advanced in Pena-Shokeir Syndrome Type 2

Dr. Gilbert G. Fareau

Endocrinology

Referral required

Clinical Cancer Center - Froedtert Hospital

8800 W. Doyne Ave.,

Milwaukee, WI

414-805-0505

Languages Spoken:

English

See accepted insurances

Accepting New Patients

Offers Telehealth

Gilbert Fareau is an Endocrinologist practicing medicine in Milwaukee, Wisconsin. Dr. Fareau is rated as an Advanced provider by MediFind in the treatment of Pena-Shokeir Syndrome Type 2. He is also highly rated in 66 other conditions, according to our data. His clinical expertise encompasses Thyroid Cancer, Papillary Thyroid Cancer, Medullary Thyroid Carcinoma, Anaplastic Thyroid Cancer, and Thyroidectomy. Dr. Fareau is board certified in Internal Medicine. Dr. Fareau is currently accepting new patients.