National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Acromicric dysplasia


Other Names:
Acromicric skeletal dysplasia
Categories:
Acromicric dysplasia is a rare type of skeletal dysplasia characterized by abnormal bone growth. Signs and symptoms include short stature, short hands and feet, mildly distinctive facial features, characteristic X-ray abnormalities of the hands, and other features that occasionally occur. Intelligence is normal.[1] It has recently been found to be caused by mutations in the FBN1 gene and is inherited in an autosomal dominant manner.[2] The prognosis for affected individuals is good; no major complications appear to occur in affected individuals and life expectancy is normal.[1]
Last updated: 1/30/2012
Acromicric dysplasia usually first becomes apparent during late infancy. It is mainly characterized by abnormally short hands and feet, short stature, and mild facial abnormalities. Certain bones in the hands, fingers, feet and toes are abnormally short and stubby (brachydactyly). The long bones of the arms and legs may also be abnormally short. In some cases, individuals may have a malformation of the thigh bone (femur). Most affected individuals described in the medical literature have reached an average adult height of about four feet.[3] Characteristic facial features that have been reported include a round face; narrow palpebral fissures; well-defined eyebrows; long eyelashes; a bulbous nose with anteverted nostrils; a long and prominent philtrum; and thick lips with a small mouth.[1] As affected individuals age, the distinctive facial characteristics typically become less obvious.[3] Other features that occasionally occur in affected individuals include well-developed muscles; a hoarse voice; frequent ear, tracheal, and respiratory infections; and spine abnormalities.[1] Life expectancy is normal.[1]
Last updated: 1/30/2012

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal eyebrow morphology
Abnormality of the eyebrow
0000534
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] 		0000463
Brachydactyly
Short fingers or toes
0001156
Long eyelashes
Increased length of eyelashes
Unusually long eyelashes
[ more ] 		0000527
Long philtrum 0000343
Round face
Circular face
Round facial appearance
Round facial shape
[ more ] 		0000311
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] 		0003510
Short nose
Decreased length of nose
Shortened nose
[ more ] 		0003196
Short palm 0004279
Small hand
Disproportionately small hands
0200055
30%-79% of people have these symptoms
Bulbous nose 0000414
Decreased nerve conduction velocity 0000762
Narrow mouth
Small mouth
0000160
Thick lower lip vermilion
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ] 		0000179
5%-29% of people have these symptoms
Abnormality of epiphysis morphology
Abnormal shape of end part of bone
0005930
Abnormality of femur morphology
Abnormality of the thighbone
0002823
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ] 		0002750
Fifth metacarpal with ulnar notch 0005900
Hoarse voice
Hoarseness
Husky voice
[ more ] 		0001609
Joint stiffness
Stiff joint
Stiff joints
[ more ] 		0001387
Ovoid vertebral bodies 0003300
Short metacarpal
Shortened long bone of hand
0010049
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Cone-shaped epiphysis
Cone-shaped end part of bone
0010579
Deep philtrum 0002002
Short foot
Short feet
Small feet
[ more ] 		0001773
Short long bone
Long bone shortening
0003026
Short phalanx of finger
Short finger bones
0009803
Thickened skin
Thick skin
0001072
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Last updated: 7/1/2020
Acromicric dysplasia is inherited in an autosomal dominant manner. This means that only one abnormal copy of the disease-causing gene is sufficient to cause the disorder. Not all affected individuals inherit the condition from an affected parent. In most cases, the condition results from a new mutation that occurs for the first time in an affected individual.[1][2] An affected individual has a 50% (1 in 2) risk to pass the condition on to each of of his/her children.
Last updated: 1/30/2012

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment of acromicric dysplasia focuses on the specific signs and symptoms that are present in each individual; it is generally symptomatic and supportive.[3] The prognosis for affected individuals is good; no major complications appear to occur in the course of the disease and life expectancy is normal.[1]
Last updated: 1/30/2012

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Overlapping syndromes include geleophysic dysplasia, Weill-Marchesani syndrome, and Myhre syndrome (see these terms). Geleophysic dysplasia can be distinguished from acromicric dysplasia by the presence of cardiac abnormalities (e.g. cardiac valvular thickening), Weill-Marchesani syndrome by the presence of microspherophakia, and Myhre syndrome by the presence of prognathism, deafness, developmental delay, and a thick calvarium.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Acromicric dysplasia. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Acromicric dysplasia:
    International Skeletal Dysplasia Registry (ISDR)
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Providing General Support

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

  • Genetics Home Reference (GHR) contains information on Acromicric dysplasia. This website is maintained by the National Library of Medicine.
  • 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 Acromicric dysplasia. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • What information do you have on acromicric dysplasia? What is the prevalence? Is HGH treatment used for people with this condition, and if so, what are the results? What is the average adult height? My daughter has been diagnosed with it based upon her skeletal bone X-ray but we are in the process of going through genetic testing for it to confirm. See answer


  1. L. Faivre-Olivier. Acromicric dysplasia. Orphanet. May 2006; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=969. Accessed 1/25/2012.
  2. Marla J. F. O'Neill. ACROMICRIC DYSPLASIA; ACMICD. OMIM. August 22, 2011; http://omim.org/entry/102370. Accessed 1/30/2012.
  3. Acromicric Dysplasia. NORD. August 8, 2007; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1078/viewAbstract. Accessed 1/30/2012.