What is Coffin-Lowry syndrome?
What is Coffin-Lowry syndrome?
- Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
- 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
Coffin-Lowry syndrome: Introduction
Types of Coffin-Lowry syndrome:
Broader types of Coffin-Lowry syndrome:
How many people get Coffin-Lowry syndrome?
Prevalance of Coffin-Lowry syndrome: estimated 7 per 100,000 people have Coffin-Lowry syndrome in western Europe and North America, Genetics Home Reference website
Prevalance Rate of Coffin-Lowry syndrome: approx 1 in 14,285 or 0.01% or 19,040 people in USA [about data]
Who gets Coffin-Lowry syndrome?
Profile for Coffin-Lowry syndrome:
The disorder affects males and females in equal numbers,
however, symptoms may be more severe in males.
(Source: excerpt from NINDS Coffin Lowry Information Page: NINDS)
How serious is Coffin-Lowry syndrome?
Complications of Coffin-Lowry syndrome:
see complications of Coffin-Lowry syndrome
Prognosis of 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)
What causes Coffin-Lowry syndrome?
Causes of Coffin-Lowry syndrome: see causes of Coffin-Lowry syndrome
Causes of Coffin-Lowry syndrome:
The disorder is caused by a
defective gene, which was found in 1996 on the X chromosome
(Xp22.2-p22.1).
(Source: excerpt from NINDS Coffin Lowry Information Page: NINDS)
What are the symptoms of Coffin-Lowry syndrome?
Symptoms of Coffin-Lowry syndrome:
see symptoms of Coffin-Lowry syndrome
Complications of Coffin-Lowry syndrome:
see complications of Coffin-Lowry syndrome
Can anyone else get Coffin-Lowry syndrome?
Inheritance:
see inheritance of Coffin-Lowry syndrome
Inheritance of genetic conditions: see details in inheritance of genetic diseases.
Coffin-Lowry syndrome: Testing
Diagnostic testing: see tests for Coffin-Lowry syndrome.
Misdiagnosis: see misdiagnosis and Coffin-Lowry syndrome.
How is it treated?
Treatments for Coffin-Lowry syndrome:
see treatments for Coffin-Lowry syndrome
Prevention of Coffin-Lowry syndrome:
see prevention of Coffin-Lowry syndrome
Research for Coffin-Lowry syndrome:
see research for Coffin-Lowry syndrome
Name and Aliases of Coffin-Lowry syndrome
Main name of condition: Coffin-Lowry syndrome
Class of Condition for Coffin-Lowry syndrome: genetic x-linked dominant
Other names or spellings for Coffin-Lowry syndrome:
Coffin-Siris-Wegienka syndrome, Coffin Syndrome 2, soft hands syndrome, Mental retardation with osteocartilaginous abnormalities, CLS, Coffin syndrome
CLS, Coffin syndrome, Mental retardation with osteocartilaginous abnormalities
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)
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