Acrodysostosis
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Definition
Acrodysostosis is an extremely rare disorder that is present at birth (congenital). People with this condition have problems in the bones of the hands, feet, and nose, and mental retardation.
Alternative Names
Arkless-Graham; Acrodysplasia; Maroteaux-Malamut
Causes, incidence, and risk factors
Most patients with acrodysostosis have no family history of the disease. However, sometimes the condition is passed down from parent to child. Parents with the condition have a 1 in 2 chance of passing the disorder to their children.
There is a slightly greater risk with fathers who are older.
Review Date: 11/1/2010
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
Alternative Names
Arkless-Graham; Acrodysplasia; Maroteaux-Malamut
Symptoms
- Frequent middle ear infections
- Growth problems, short arms and legs
- Hearing problems
- Mental deficiency
- Unusual looking face
Signs and tests
A physical exam confirms this disorder.
Findings may include:
Advanced bone age
Bone deformities in hands and feet
Delays in growth
Problems with the skin, genitals, teeth, and skeleton
Short arms and legs with small hands and feet
Short head, measured front to back (brachycephaly)
Short height
Small, upturned broad nose with flat bridge
Unusual features of the face (short nose, open mouth, jaw that sticks out)
Unusual head
Wide-spaced eyes (hypertelorism), sometimes with extra skin fold at corner of eye
In the first months of life, x-rays may show spotty calcium deposits, called stippling, in bones (especially the nose). Infants may also have:
Review Date: 11/1/2010
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
Alternative Names
Arkless-Graham; Acrodysplasia; Maroteaux-Malamut
Treatment
Treatment depends on the physical and mental problems that occur.
Orthopedic care, early intervention, and special education are recommended.
Expectations (prognosis)
Problems depend on the degree of skeletal involvement and mental retardation. In general, patients do relatively well.
Complications
Calling your health care provider
Call your health care provider if your child seems to be growing or developing slowly or abnormally, or if you notice physical abnormalities in your infant.
Review Date: 11/1/2010
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
Alternative Names
Arkless-Graham; Acrodysplasia; Maroteaux-Malamut
Prevention
Consider genetic counseling to help with diagnosis, testing, and identifying risk.
Review Date: 11/1/2010
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
Review Date: 11/1/2010
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2004 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.