Rare Immunology News

Disease Profile

Acromicric dysplasia

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

Q77.8

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)

Acromicric skeletal dysplasia

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

Acromicric dysplasia affects the growth and development of the bones. Signs and symptoms include short stature, short hands and feet, and distinctive facial features. Overtime, people with acromicric dysplasia may develop limited joint movement and hip dislocations. Acromicric dysplasia does not affect intelligence or learning. Acromicric dysplasia is caused by genetic variants in the FBN1 gene or the LTBP3 gene and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, and imaging studies. Diagnosis may be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms.[1][2][3][4]

Symptoms

The following list includes the most common signs and symptoms in people with acromicric dysplasia. These features may be different from person to person. Some people may have more symptoms than others, and they can range from mild to severe. This list does not include every symptom that has been described in the condition.

Symptoms of acromicric dysplasia may include:

  • Growth delay and short stature
  • Short bones in the hands and feet
  • Distinctive facial features
  • Joint limitations that get worse over time

Acromicric dysplasia is present from birth. Growth delay occurs in the first year of life. Over time, people with acromicric dysplasia may develop hip problems (hip dysplasia) and carpal tunnel syndrome. Other symptoms may include frequent ear infections, hoarse voice, lung diseases like asthma, and eye abnormalities.[1][3][4]

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
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

Cause

Acromicric dysplasia occurs when the FBN1 or the LTBP3 gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.[2][4]

Diagnosis

Diagnosis of acromicric dysplasia is based on the symptoms, clinical exam, and imaging studies. The bones of people with acromicric dysplasia have characteristic findings seen on x-rays. The results of genetic testing can help confirm the diagnosis.[1][3]

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

    Treatment of acromicric dysplasia is focused on managing the symptoms. Treatment may include physical therapy and surgery to correct hip problems.[1][3]

    Specialists involved in the care of someone with acromicric dysplasia may include:

    • Orthopedist
    • Ophthalmologist
    • Pulmonologist
    • Otolaryngologist
    • Medical geneticist

    Organizations

    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

      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

      • 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.

          References

          1. Faivre L, Le Merrer M, Baumann C, Polak M, Chatelain P, Sulmont V, Cousin J, Bost M, Cordier MP, et al. Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. J Med Genet. Nov 2001; 38(11):745-9. https://pubmed.ncbi.nlm.nih.gov/11694546/.
          2. Sakai LY, Keene DR. Fibrillin protein pleiotropy: Acromelic dysplasias. Matrix Biol. Jul 2019; 80:6-13. https://pubmed.ncbi.nlm.nih.gov/30219651/.
          3. Marzin P, Thierry B, Dancasius A, Cavau A, Michot C, Rondeau S, et al. Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases. Genet Med. Oct 21, 2020; Epub ahead of print. https://pubmed.ncbi.nlm.nih.gov/33082559/.
          4. McInerney-Leo AM, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, et al. Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. J Med Genet. Jul 2016; 53(7):457-64. https://pubmed.ncbi.nlm.nih.gov/27068007.

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