Last updated:
August 07, 2007
Years published: 1992, 1999, 2007
Metatropic Dysplasia I is a rare genetic disorder characterized by extremely small stature, with short arms and legs. Other characteristics of this disorder are a narrow thorax, short ribs, and kyphoscoliosis (backward and sideways curvature of the spinal column) which develops into short trunk dwarfism.
Metatropic Dysplasia I is characterized by abnormal skeletal development. Patients with this disorder typically have short ribs, short deformed arms and legs, kyphoscoliosis (abnormal curvature of the spine) and extremely short stature. A long narrow thorax, bulging joints with limited mobility of the knees and hips, and unusual increased extension of the finger joints are typical features.
An unusually long torso, which later develops into short trunk dwarfism due to curvature of the spine, is an early feature of Metatropic Dysplasia I. The spine develops a forward hump-like curvature causing a humpback.
X-rays show growth insufficiency of the vertebral column with flattening of vertebrae and often growth insufficiency in the arm and leg bones at the hip and shoulder joints. A crescent-like iliac causing a hump at the end of the spine is also apparent.
Metatropic Dysplasia I can be inherited as an autosomal dominant or autosomal recessive trait.
Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother.
In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed “dominating” the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.
In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.
Metatropic Dysplasia I is a very rare disorder that affects males and females in equal numbers.
Treatment of Metatropic Dysplasia I is symptomatic and supportive. When partial dislocation of the segments of the spinal column at the top of the spine (cervical vertebrae) is present, the joint between the two vertebrae can be fused together. This procedure should be done in order to prevent damage to the cervical part of the spinal cord.
Genetic counseling may be of benefit for patients and their families.
Research on birth defects and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future.
Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com
TEXTBOOKS
Jones KL, ed., Smith’s Recognizable Patterns of Human Malformation. 5th ed.Philadelphia, PA: W.B. Saunders Co; 1997:368-71.
Buy0se ML, ed., Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications; for International Center for Birth Defects Information Services, Inc;1990:1135-36.
JOURNAL ARTICLES
O’Sullivan MJ, et al., Morphological observations in a case of lethal variant (type 1) metatropic dysplasia with atypical features: morphology of lethal metatropic dysplasia. Pediatr Dev Pathol. 1998;1:405-12.
Manouvrier-Hanu S., et al., Prenatal diagnosis of metatropic dwarfism. Prenat Diagn. 1995;15:753-56.
Yamashita S, et al., [A case of motor and sensory neuropathy associated with metatropic dysplasia]. No To Hattatsu. 1994;26:258-62. Japanese.
Nieves Gil A, et al., Metatropic dysplasia: a case report. Am J Perinatol. 1995;12:129-31.
FROM THE INTERNET
(OMIM) McKusick VA, ed. Entry 250600, On-line Mendelian Inheritance in Man (OMIM). Created; 6/4/86.
Latest Up-date; 3/9/94.
https://www.orpha.net/data/patho/GB/uk-MetatropicDysplasia.pdf
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Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).
View reportOrphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.
View reportOnline Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.
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