Marshall-Smith syndrome
Encyclopedia
Marshall-Smith Syndrome, discovered in 1971 (Marshall, Graham, Scott, Boner, & Smith), is characterized by unusual accelerated skeletal maturation
(usually starting before birth) and symptoms like conspicuous physical characteristics, respiratory difficulties, and mental retardation. Cases described in the literature show a clinical variabililty regarding related symptoms. For instance, respiratory difficulties are ranging from absent to severe difficulties.
Respiratory complications are often cause of death in early infancy.
has been carried out.
Bone age
Bone age is a way of describing the degree of maturation of child's bones. As a person grows from fetal life through childhood, puberty, and finishes growth as a young adult, the bones of the skeleton change in size and shape. These changes can be seen by x-ray. The "bone age" of a child is the...
(usually starting before birth) and symptoms like conspicuous physical characteristics, respiratory difficulties, and mental retardation. Cases described in the literature show a clinical variabililty regarding related symptoms. For instance, respiratory difficulties are ranging from absent to severe difficulties.
Phenotype
The syndrome is a rare clinical disorder.- Physical
- Overgrowth
- Accelerated skeletal maturationBone ageBone age is a way of describing the degree of maturation of child's bones. As a person grows from fetal life through childhood, puberty, and finishes growth as a young adult, the bones of the skeleton change in size and shape. These changes can be seen by x-ray. The "bone age" of a child is the...
- Dysmorphic facial features
- Prominent eyes
- Bluish sclerae
- Coarse eyebrows
- Upturned nose
- Radiologic examinationRadiologyRadiology is a medical specialty that employs the use of imaging to both diagnose and treat disease visualized within the human body. Radiologists use an array of imaging technologies to diagnose or treat diseases...
- Accelerated osseousOsseous tissueOsseous tissue, or bone tissue, is the major structural and supportive connective tissue of the body. Osseous tissue forms the rigid part of the bone organs that make up the skeletal system.-Formation:Bone tissue is a mineralized connective tissue...
maturation - Phalangeal abnormalities
- Tubular thinning of the long bones
- Skull abnormalities
- Accelerated osseous
- Mental
- Often associated with mental retardationMental retardationMental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...
(of variable degree)
- Often associated with mental retardation
Genotype
The first gene that could cause the syndrome is described recently and is called NF1X (chromosome 19: 19p13.1).Health and screening
- Clinical course
- Respiratory difficulties (like upper airway obstructionAirway obstructionAirway obstruction is a respiratory problem caused by increased resistance in the bronchioles that reduces the amount of air inhaled in each breath and the oxygen that reaches the pulmonary arteries...
. (Note regarding clinical variabililty: respiratory difficulties might be absent.) - PneumoniaPneumoniaPneumonia is an inflammatory condition of the lung—especially affecting the microscopic air sacs —associated with fever, chest symptoms, and a lack of air space on a chest X-ray. Pneumonia is typically caused by an infection but there are a number of other causes...
- Failure to thriveFailure to thriveFailure to thrive is a medical term which is used in both pediatric and adult human medicine, as well as veterinary medicine ....
- Psychomotor retardationPsychomotor retardationPsychomotor retardation involves a slowing-down of thought and a reduction of physical movements in an individual. Psychomotor retardation can cause a visible slowing of physical and emotional reactions, including speech and affect...
- Respiratory difficulties (like upper airway obstruction
Respiratory complications are often cause of death in early infancy.
Translated
- English: Marshall–Smith syndrome
- Español: Síndrome de Marshall–Smith
- Français: Le syndrome de Marshall–Smith
- Italiano: Sindrome di Marshall–Smith
- Nederlands: Marshall–Smithsyndroom, syndroom van Marshall–Smith
- Polski: Zespół Marshalla–Smitha, Zespół Marshalla i Smitha
- Русский: Синдром Маршалла–Смита
Synonyms
- Greig's syndromeGreig cephalopolysyndactyly syndromeGreig cephalopolysyndactyly syndrome is a disorder that affects development of the limbs, head, and face. The features of this syndrome are highly variable, ranging from very mild to severe...
or Polysyndactyly cephalopolysyndactyly syndrome http://www.whonamedit.com/synd.cfm/1665.html - Accelerated skeletal maturation, Marshall-Smith type http://www.whonamedit.com/synd.cfm/1665.html
Related syndromes
Marshall–Smith syndrome is not to be confused with:- Marshall syndromeMarshall syndromeMarshall syndrome is a genetic disorder of the connective tissue which can cause hearing loss. The three most common areas to be affected are the eyes, joints and the mouth and facial structures...
(aka.Periodic fever, aphthous stomatitis, pharyngitis and adenitisPeriodic fever, aphthous stomatitis, pharyngitis and adenitisPeriodic fever, aphthous stomatitis, pharyngitis and adenitis or periodic fever aphthous pharyngitis and cervical adenopathy syndrome is a medical condition, typically starting in young children, in which high fever occurs periodically at intervals of about 3–5 weeks, frequently accompanied by...
(PFAPA syndrome, see also: Periodic fever syndromePeriodic fever syndromeThe periodic fever syndromes are a set of disorders, many of which are genetic disorders in which the mechanisms which initiate and control inflammation are disturbed, leading to uncontrolled inflammation throughout the body...
) - Sotos (like) syndrome
- Weaver-Smith syndrome (WSS) http://www.erfelijkheid.nl/zena/weaver_syndroom.php
Research
After the first discovery and description of Marshall–Smith syndrome in 1971, research to this rare syndromeSyndrome
In medicine and psychology, a syndrome is the association of several clinically recognizable features, signs , symptoms , phenomena or characteristics that often occur together, so that the presence of one or more features alerts the physician to the possible presence of the others...
has been carried out.
- Adam, M., Hennekam, R.C.M., Butler, M.G., Raf, M., Keppen, L., Bull, M., Clericuzio, C., Burke, L., Guttacher, A., Ormond, K., & Hoyme, H.E. (2002). Marshall–Smith syndrome: An osteochondrodysplasia with connective tissue abnormalities. 23rd Annual David W. Smith Workshop on Malformations and Morphogenesis, August 7, Clemson, SC.
- Adam MP, Hennekam RC, Keppen LD, Bull MJ, Clericuzio CL, Burke LW, Guttmacher AE, Ormond KE and Hoyme HE: Marshall-Smith Syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. Am J Med Genet 137A:117–124, 2005..
- Baldellou Vazquez A, Ruiz-Echarri Zelaya MP, Loris Pablo C, Ferr#{225}ndez Longas A, Tamparillas Salvador M. El sIndrome de Marshall-Smith: a prop#{243}sito de una observad#{243}n personal. An Esp Pediatr 1983; 18:45-50.
- Butler, M.G. (2003). Marshall–Smith syndrome. In: The NORD Guide to Rare Disorders. (pp219–220) Lippincott, Williams & Wilkins, Philadelphia, PA.
- Charon A, Gillerot T, Van Maldergem L, Van Schaftingen MH, de Bont B, Koulischer L. The Marshall–Smith syndrome. Eur J Pediatr 1990; 150: 54-5.
- Dernedde, G., Pendeville, P., Veyckemans, F., Verellen, G. & Gillerot, Y. (1998). Anaesthetic management of a child with Marshall–Smith syndrome. Canadian Journal of Anesthesia. 45 (7): 660. Anaesthetic management of a child with Marshall-Smith syndrome
- Diab, M., Raff, M., Gunther, D.F. (2002). Osseous fragility in Marshall–Smith syndrome. Clinical Report: Osseous fragility in Marshall-Smith syndrome
- Ehresmann, T., Gillessen-Kaesbach G., Koenig R. (2005). Late diagnosis of Marshall Smith Syndrome (MSS). In: Medgen 17. http://www.gfhev.de/abstracts_kongresse/2005Abstracts.pdf
- Hassan M, Sutton T, Mage K, LimalJM, Rappaport R. The syndrome of accelerated bone maturation in the newborn infant with dysmorphism and congenital malformations: (the so-called Marshall–Smith syndrome). Pediatr Radiol 1976; 5:53-57.
- Hoyme HE and Bull MJ: The Marshall-Smith Syndrome: Natural history beyond infancy. Western Society for Pediatric Research, Carmel, California, February, 1987. Clin Res 35:68A, 1987.
- Hoyme HE and Bull MJ: The Marshall-Smith Syndrome: Natural history beyond infancy. David W. Smith Morphogenesis and Malformations Workshop. Greenville, SC, August, 1987. Proceedings of the Greenwood Genetics Center 7:152, 1988.
- Hoyme HE, Byers PH, Guttmacher AE: Marshall–Smith syndrome: Further evidence of an osteochondrodysplasia in long-term survivors. David W. Smith Morphogenesis and Malformations Workshop, Winston-Salem, NC, August, 1992. Proceedings of the Greenwood Genetic Center 12:70, 1993..
- Tzu-Jou Wang (2002). Marshall–Smith syndrome in a Taiwanese patient with T-cell immunodeficiency. Am J Med Genet Part A;112 (1):107-108. http://www3.interscience.wiley.com/cgi-bin/abstract/97516033/ABSTRACT
External links
- Marshall Smith.org offers a multilingual platform serving parents, family circle, specialists, and presents past and upcoming research.
- Encyclopedia of Genetic Disorders
- clinical synopsis at Online Mendelian Inheritance in Man (OMIM).
- Case report: Difficult airway in a patient with Marshall-Smith syndrome