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Diseases » COFS syndrome » Summary
 

What is COFS syndrome?

What is COFS syndrome?

  • COFS syndrome: A genetic disorder involving degeneration of the brain and spinal cord that starts during the fetal stage.

COFS syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that COFS syndrome, or a subtype of COFS syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list COFS syndrome as a "rare disease".
Source - Orphanet

COFS syndrome: Introduction

Types of COFS syndrome:

Broader types of COFS syndrome:

What causes COFS syndrome?

Causes of COFS syndrome: see causes of COFS syndrome

What are the symptoms of COFS syndrome?

Symptoms of COFS syndrome: see symptoms of COFS syndrome

COFS syndrome: Testing

Diagnostic testing: see tests for COFS syndrome.

Misdiagnosis: see misdiagnosis and COFS syndrome.

How is it treated?

Doctors and Medical Specialists for COFS syndrome: Neurologist ; see also doctors and medical specialists for COFS syndrome.
Treatments for COFS syndrome: see treatments for COFS syndrome
Research for COFS syndrome: see research for COFS syndrome

Name and Aliases of COFS syndrome

Main name of condition: COFS syndrome

Other names or spellings for COFS syndrome:

Cerebro-oculo-facio-skeletal syndrome, Pena-Shokeir syndrome Type 2, Microcephaly, hypotonia, arthrogryposis, eye defects, prominent nose, large ears, overhanging upper lip, micrognathia, kyphoscoliosis, osteoporosis, Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia

Cerebro oculo facio skeletal syndrome, Microcephaly, hypotonia, arthrogryposis, eye defects, prominent nose, large ears, overhanging upper lip, micrognathia, kyphoscoliosis, osteoporosis, Pena Shokeir syndrome Type II, Pena-Shokeir syndrome type II, Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia, Cerebro oculo facio skeletal syndrome, Microcephaly, hypotonia, arthrogryposis, eye defects, prominent nose, large ears, overhanging upper lip, micrognathia, kyphoscoliosis, osteoporosis, Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia, Pena Shokeir syndrome Type II
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

 

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