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.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
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
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.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
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.
Other Names (AKA)
Acromicric skeletal dysplasia
Congenital and Genetic Diseases; Musculoskeletal Diseases
Acromicric dysplasia affects the growth and development of the bones. Signs and symptoms include
Symptoms of acromicric dysplasia may include:
- Growth delay and
- 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.
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||
|80%-99% of people have these symptoms|
|Abnormal eyebrow morphology||
Abnormality of the eyebrow
Nasal tip, upturned
Upturned nasal tip
[ more ]
Short fingers or toes
Increased length of eyelashes
Unusually long eyelashes
[ more ]
Round facial appearance
Round facial shape
[ more ]
|Severe short stature||
Short stature, severe
[ more ]
Decreased length of nose
[ more ]
Disproportionately small hands
|30%-79% of people have these symptoms|
|Decreased nerve conduction velocity||0000762|
|Thick lower lip vermilion||
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ]
|5%-29% of people have these symptoms|
|Abnormality of epiphysis morphology||
Abnormal shape of end part of bone
|Abnormality of femur morphology||
Abnormality of the thighbone
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development
[ more ]
|Fifth metacarpal with ulnar notch||0005900|
[ more ]
[ more ]
|Ovoid vertebral bodies||0003300|
Shortened long bone of hand
|Percent of people who have these symptoms is not available through HPO|
Cone-shaped end part of bone
[ more ]
|Short long bone||
Long bone shortening
|Short phalanx of finger||
Short finger bones
- 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.
Specialists involved in the care of someone with acromicric dysplasia may include:
Orthopedist Ophthalmologist Pulmonologist Otolaryngologist Medical geneticist
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.
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.
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.
- 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.
- 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.
- 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/.
- Sakai LY, Keene DR. Fibrillin protein pleiotropy: Acromelic dysplasias. Matrix Biol. Jul 2019; 80:6-13. https://pubmed.ncbi.nlm.nih.gov/30219651/.
- 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/.
- 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.