Coffin-Lowry syndrome
Coffin-Lowry syndrome: Introduction
Coffin-Lowry syndrome:
Coffin-Lowry syndrome is a rare genetic disorder
characterized by craniofacial (head and facial) and skeletal
abnormalities, mental retardation, short ... more about Coffin-Lowry syndrome.
Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
More detailed information about the symptoms,
causes, and treatments of Coffin-Lowry syndrome is available below.
Symptoms of Coffin-Lowry syndrome
See full list of 66
symptoms of Coffin-Lowry syndrome
Treatments for Coffin-Lowry syndrome
Read more about treatments for Coffin-Lowry syndrome
Wrongly Diagnosed with Coffin-Lowry syndrome?
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Coffin-Lowry syndrome: Related Patient Stories
News Archives for Coffin-Lowry syndrome
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Source: HealthDay News
Coffin-Lowry syndrome: Complications
Review possible medical complications related to Coffin-Lowry syndrome:
Causes of Coffin-Lowry syndrome
Read more about causes of Coffin-Lowry syndrome.
Disease Topics Related To Coffin-Lowry syndrome
Research the causes of these diseases that are similar to, or related to, Coffin-Lowry syndrome:
Medical Textbooks Online about Coffin-Lowry syndrome
Book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
Less Common Symptoms of Coffin-Lowry syndrome
See full list of 15
occasional symptoms of Coffin-Lowry syndrome
Evidence Based Medicine Research for Coffin-Lowry syndrome
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Patient Surveys for Coffin-Lowry syndrome
Prognosis for Coffin-Lowry syndrome
Prognosis for Coffin-Lowry syndrome:
The
prognosis for individuals with Coffin-Lowry syndrome varies depending on
the severity of symptoms. Early intervention may improve the outlook for
patients.
(Source: excerpt from NINDS Coffin Lowry Information Page: NINDS)
More about prognosis of Coffin-Lowry syndrome
Reseach about Coffin-Lowry syndrome
Visit our research pages for current research about Coffin-Lowry syndrome treatments.
Statistics for Coffin-Lowry syndrome
Coffin-Lowry syndrome: Broader Related Topics
Types of Coffin-Lowry syndrome
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Article Excerpts about Coffin-Lowry syndrome
Coffin-Lowry syndrome is a rare genetic disorder
characterized by craniofacial (head and facial) and skeletal
abnormalities, mental retardation, short stature, and hypotonia.
(Source: excerpt from NINDS Coffin Lowry Information Page: NINDS)
Definitions of Coffin-Lowry syndrome:
A rare, X-linked mental retardation syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.
- (Source - Diseases Database)
Coffin-Lowry syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Coffin-Lowry syndrome, or a subtype of Coffin-Lowry 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 Coffin-Lowry syndrome as a "rare disease".
Source - Orphanet
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