Rare Ophthalmology News

Disease Profile

Marshall syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Deafness, myopia, cataract, saddle nose-Marshall type

Categories

Congenital and Genetic Diseases; Eye diseases; Musculoskeletal Diseases;

Summary

Marshall syndrome is an inherited condition characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Those with Marshall syndrome can also have short stature. Some researchers have argued that Marshall syndrome represents a variant form of Stickler syndrome; but this remains controversial.[1] Marshall syndrome is caused by mutations in the COL11A1 gene and is inherited in an autosomal dominant fashion.[2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality

[ more ]

0000164
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Arthralgia
Joint pain
0002829
Brachycephaly
Short and broad skull
0000248
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

0005280
Flat face
Flat facial shape
0012368
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypoplasia of the zygomatic bone
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone

[ more ]

0010669
Long philtrum
0000343
Malar flattening
Zygomatic flattening
0000272
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Sensorineural hearing impairment
0000407
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Short stature
Decreased body height
Small stature

[ more ]

0004322
Thick lower lip vermilion
Increased volume of lower lip
Plump lower lip
Prominent lower lip

[ more ]

0000179
Thick upper lip vermilion
Full upper lip
Increased volume of upper lip
Plump upper lip
Prominent upper lip
Thick upper lip

[ more ]

0000215
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431
30%-79% of people have these symptoms
Amblyopia
Lazy eye
Wandering eye

[ more ]

0000646
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Cleft palate
Cleft roof of mouth
0000175
Ectopia lentis
0001083
Genu valgum
Knock knees
0002857
Glaucoma
0000501
Hypohidrosis
Decreased ability to sweat
Decreased sweating
Sweating, decreased

[ more ]

0000966
Hypoplasia of the maxilla
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion

[ more ]

0000327
Hypoplastic frontal sinuses
0002738
Osteoarthritis
Degenerative joint disease
0002758
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes

[ more ]

0000520
Retinal detachment
Detached retina
0000541
Thickened calvaria
Increased thickness of skull cap
Thickened skull cap

[ more ]

0002684
Vitreoretinopathy
0007773
5%-29% of people have these symptoms
Frontal bossing
0002007
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Sparse and thin eyebrow
Thin, sparse eyebrows
0000535
Sparse eyelashes
Scant eyelashes
Scanty eyelashes
Thin eyelashes

[ more ]

0000653
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Percent of people who have these symptoms is not available through HPO
Absent frontal sinuses
0002688
Autosomal dominant inheritance
0000006
Calcification of falx cerebri
0005462
Coxa valga
0002673
Developmental cataract
Clouding of the lens of the eye at birth
0000519
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Esotropia
Inward turning cross eyed
0000565
Hypoplastic ilia
0000946
Irregular distal femoral epiphysis
Irregular outermost thighbone end part
0006407
Irregular proximal tibial epiphyses
Irregular innermost shankbone end part
Irregular innermost shinbone end part

[ more ]

0006456
Lens luxation
Dislocated lens
0012019
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Macrodontia of permanent maxillary central incisor
0000675
Meningeal calcification
0100250

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Marshall syndrome. Click on the link to view a sample search on this topic.

References

  1. Stickler syndrome. Genetics Home Reference. July 2008 ; https://ghr.nlm.nih.gov/condition/stickler-syndrome. Accessed 11/29/2011.
  2. Marshall syndrome. Orphanet. March 2006; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=560. Accessed 11/29/2011.
  3. Griffith AJ, Sprunger LK, Sirko-Osadsa DA, Tiller GE, Meisler MH, Warman ML. Marshall syndrome associated with a splicing defect at the COL11A1 locus. American Journal of Human Genetics. 1998; 62:816-823. https://www.ncbi.nlm.nih.gov/pubmed/9529347. Accessed 7/13/2012.
  4. Ala-Kokko L, Shanske AL. Mosaicism in Marshall Syndrome. American Journal of Medical Genetics. Part A. 2009; 149A:1327-1330. https://www.ncbi.nlm.nih.gov/pubmed/19449424. Accessed 7/11/2012.
  5. Shanske AL, Bogdanow A, Shprintzen RJ, Marion RW. The Marshall Syndrome: Report of a New Family and Review of the Literature. American Journal of Medical Genetics. 1997; 70:52-57. https://www.ncbi.nlm.nih.gov/pubmed/9129742. Accessed 7/11/2012.
  6. McKusick VA, O'Neill MJF. Marshall syndrome. Online Mendelian Inheritance in Man. 2007; https://omim.org/entry/154780. Accessed 7/12/2012.
  7. Fitch N. The syndromes of Marshall and Weaver. Journal of Medical Genetics. 1980; 17:174-178. https://www.ncbi.nlm.nih.gov/pubmed/7401127. Accessed 7/11/2012.

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