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What is Marshall-Smith Syndrome?

What is Marshall-Smith Syndrome?

  • Marshall-Smith Syndrome: A rare genetic disorder characterized by accelerated growth and maturation, shallow orbits and broad middle bones of fingers.
  • 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

Marshall-Smith Syndrome: Introduction

Types of Marshall-Smith Syndrome:

Broader types of Marshall-Smith Syndrome:

How serious is Marshall-Smith Syndrome?

Complications of Marshall-Smith Syndrome: see complications of Marshall-Smith Syndrome

What causes Marshall-Smith Syndrome?

Causes of Marshall-Smith Syndrome: see causes of Marshall-Smith Syndrome

What are the symptoms of Marshall-Smith Syndrome?

Symptoms of Marshall-Smith Syndrome: see symptoms of Marshall-Smith Syndrome

Complications of Marshall-Smith Syndrome: see complications of Marshall-Smith Syndrome

Marshall-Smith Syndrome: Testing

Diagnostic testing: see tests for Marshall-Smith Syndrome.

Misdiagnosis: see misdiagnosis and Marshall-Smith Syndrome.

How is it treated?

Doctors and Medical Specialists for Marshall-Smith Syndrome: Pediatrician ; see also doctors and medical specialists for Marshall-Smith Syndrome.
Treatments for Marshall-Smith Syndrome: see treatments for Marshall-Smith Syndrome

Name and Aliases of Marshall-Smith Syndrome

Main name of condition: Marshall-Smith Syndrome

Other names or spellings for Marshall-Smith Syndrome:

MSS, Accelerated skeletal maturation [peculiar facies - failure to thrive]

Weaver-Smith syndrome, Marshall-Smith-Weaver syndrome Source - Diseases Database

MSS (Marshall-Smith syndrome)
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Marshall-Smith Syndrome: Related Conditions

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


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