What is Pena-Shokeir syndrome Type 2?

What is Pena-Shokeir syndrome Type 2?

• Pena-Shokeir syndrome Type 2: A rare progressive congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities as well as eye abnormalities.

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

Pena-Shokeir syndrome Type 2: Introduction

Types of Pena-Shokeir syndrome Type 2:

Broader types of Pena-Shokeir syndrome Type 2:

• Eye and vision conditions
• Head conditions
• Brain conditions
• Nervous system conditions
• Bone or skeletal conditions
• Musculoskeletal conditions
• Congenital conditions - physical defects
• Congenital conditions
• Degenerative conditions
• Spinal cord conditions
• Spine conditions
• Back conditions
• Intellectual or developmental disabilities
• more types...»

What causes Pena-Shokeir syndrome Type 2?

Causes of Pena-Shokeir syndrome Type 2: see causes of Pena-Shokeir syndrome Type 2

What are the symptoms of Pena-Shokeir syndrome Type 2?

Symptoms of Pena-Shokeir syndrome Type 2: see symptoms of Pena-Shokeir syndrome Type 2

Can anyone else get Pena-Shokeir syndrome Type 2?

More information: see contagiousness of Pena-Shokeir syndrome Type 2
Inheritance: see inheritance of Pena-Shokeir syndrome Type 2

Pena-Shokeir syndrome Type 2: Testing

Diagnostic testing: see tests for Pena-Shokeir syndrome Type 2.

Misdiagnosis: see misdiagnosis and Pena-Shokeir syndrome Type 2.

How is it treated?

Doctors and Medical Specialists for Pena-Shokeir syndrome Type 2: Medical Geneticist ; see also doctors and medical specialists for Pena-Shokeir syndrome Type 2.
Treatments for Pena-Shokeir syndrome Type 2: see treatments for Pena-Shokeir syndrome Type 2

Name and Aliases of Pena-Shokeir syndrome Type 2

Main name of condition: Pena-Shokeir syndrome Type 2

COFS, 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, COFS syndrome

Pena-Shokeir syndrome Type 2: Related Conditions

Research the causes of these diseases that are similar to, or related to, Pena-Shokeir syndrome Type 2:

• Neurogenic arthrogryposis
• Facial anomalies
• Pulmonary hypoplasia
• Dysmorphic features resulting from fetal akinesia
• Arthrogyrposiss multiplex congenita

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