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Marshall-Smith Syndrome

Marshall-Smith Syndrome: Introduction

Marshall-Smith Syndrome: A rare genetic disorder characterized by accelerated growth and maturation, shallow orbits and broad middle bones of fingers. More detailed information about the symptoms, causes, and treatments of Marshall-Smith Syndrome is available below.

Symptoms of Marshall-Smith Syndrome

Home Diagnostic Testing

Home medical testing related to Marshall-Smith Syndrome:

Wrongly Diagnosed with Marshall-Smith Syndrome?

Marshall-Smith Syndrome: Related Patient Stories

Marshall-Smith Syndrome: Complications

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Causes of Marshall-Smith Syndrome

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More information about causes of Marshall-Smith Syndrome:

Disease Topics Related To Marshall-Smith Syndrome

Research the causes of these diseases that are similar to, or related to, Marshall-Smith Syndrome:

Less Common Symptoms of Marshall-Smith Syndrome

Marshall-Smith Syndrome: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and Marshall-Smith Syndrome

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 absent symptoms. Although the most common symptoms are anal...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...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,...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...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...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 particularly true...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. It may be...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...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 ...read more »

Marshall-Smith Syndrome: Research Doctors & Specialists

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Hospitals & Clinics: Marshall-Smith Syndrome

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Choosing the Best Hospital: More general information, not necessarily in relation to Marshall-Smith Syndrome, on hospital performance and surgical care quality:

Marshall-Smith Syndrome: Rare Types

Rare types of diseases and disorders in related medical categories:

Marshall-Smith Syndrome: Animations

Statistics for Marshall-Smith Syndrome

Marshall-Smith Syndrome: Broader Related Topics

User Interactive Forums

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Definitions of Marshall-Smith Syndrome:

A syndrome of overgrowth of prenatal onset, advanced bone age, retarded psychomotor development, widened distal long bones, camptodactyly, and distinctive craniofacial appearance marked by large ears, broad forehead, hypertelorism, and long philtrum. Weaver syndrome is considered a variant of the Marshall-Smith syndrome but, according to some authors, these are separate entities with share some common features, including are abnormal bone maturation, accelerated growth, and delayed development but differ in their craniofacial dysmorphism. Widened middle and proximal phalanges, failure to thrive, craniofacial abnormalities (small face, prominent eyes, blue sclera, flat nose with anteverted nares, choanal atresia, and glossoptosis). respiratory disorders, hypertrichosis, and early death uniquely characterize the Marshall-Smith syndrome. A syndrome marked by symptoms similar to those in the Weaver syndrome with hyperprogesteronemia and maternal luteoma and one with cleft lip, accessory nipples, pectus excavatum, bifid xiphoid process, abnormal vertebral bodies, and inflexible right thumb are referred to as the Weaver-like syndrome. - (Source - Diseases Database)

Marshall-Smith Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Marshall-Smith Syndrome, or a subtype of Marshall-Smith 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 Marshall-Smith Syndrome as a "rare disease".
Source - Orphanet

 

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