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.
See full list of 66 symptoms of Coffin-Lowry syndrome
Read more about treatments for Coffin-Lowry syndrome
Home medical testing related to Coffin-Lowry syndrome:
Review possible medical complications related to Coffin-Lowry syndrome:
Read more about causes of Coffin-Lowry syndrome.
Research the causes of these diseases that are similar to, or related to, Coffin-Lowry syndrome:
See full list of 15 occasional symptoms of Coffin-Lowry syndrome
Commonly undiagnosed diseases in related medical categories:
Mild worm infections undiagnosed in children: Human worm infestations, esp. threadworm, can be overlooked in some cases, because it may cause only mild or even...read more »
Undiagnosed stroke leads to misdiagnosed aphasia: BBC News UK reported on a man who had been institutionalized and treated for mental illness because he suffered from sudden inability to speak. This was initially misdiagnosed as a "nervous...read more »
Dementia may be a drug interaction: A common scenario in aged care is for a patient to show mental decline to dementia. Whereas this can, of course, occur due to various medical conditions,...read more »
Mesenteric adenitis misdiagnosed as appendicitis in children: Because appendicitis is one of the more feared conditions for a child with abdominal pain, it can be over-diagnosed (it can, of course, also fail to be diagnosed with...read more »
Blood pressure cuffs misdiagnose hypertension in children: One known misdiagnosis issue with hyperension, arises in relation to the simple equipment used to test blood pressure. The "cuff"...read more »
Mild traumatic brain injury often remains undiagnosed: Although the symptoms of severe brain injury are hard to miss, it is less clear for milder injuries, or even those causing a mild ...read more »
MTBI misdiagnosed as balance problem: When a person has symptoms such as vertigo or dizziness, a diagnosis of brain injury may go overlooked. This is...read more »
Brain pressure condition often misdiagnosed as dementia: A condition that results from an excessive pressure of CSF within the brain is often misdiagnosed...read more »
Post-concussive brain injury often misdiagnosed: A study found that soldiers who had suffered a concussive injury in battle often were misdiagnosed on their return. A variety of symptoms can...read more »
Children with migraine often misdiagnosed: A migraine often fails to be correctly diagnosed in pediatric patients. These patients are not the typical migraine sufferers, but migraines can also occur in children. See misdiagnosis of...read more »
Read more about Misdiagnosis and Coffin-Lowry syndrome
Research related physicians and medical specialists:
Other doctor, physician and specialist research services:
Research quality ratings and patient safety measures for medical facilities in specialties related to Coffin-Lowry syndrome:
Hospital & Clinic quality ratings »
Choosing the Best Hospital: More general information, not necessarily in relation to Coffin-Lowry syndrome, on hospital performance and surgical care quality:
Rare types of diseases and disorders in related medical categories:
Medical research articles related to Coffin-Lowry syndrome include:
Click here to find more evidence-based articles on the TRIP Database
More Coffin-Lowry syndrome animations & videos
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
Visit our research pages for current research about Coffin-Lowry syndrome treatments.
Types of Coffin-Lowry syndrome
Related forums and medical stories:
Read about other experiences, ask a question about Coffin-Lowry syndrome, or answer someone else's question, on our message boards:
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)
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
Tools & Services:
Medical Articles:
Search Specialists by State and City
By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.
Copyright © 2011 Health Grades Inc. All rights reserved. Last Update: 7 May, 2013 (4:35)
