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Disease Profile
Acrogeria, Gottron type
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.
0
Age of onset
Childhood
ICD-10
L90.8
Inheritance
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.
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.
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.
Not applicable
Other names (AKA)
Metageria; Acrometageria; Familial acrogeria;
Categories
Congenital and Genetic Diseases; Skin Diseases
Summary
Acrogeria, Gottron type is a premature aging
Symptoms
Signs and symptoms may include:[1][2][3]
- Thin, fragile skin on the hands, feet and face
- Small stature
- Visible blood vessels
- Easy bruising
- Hair and nail abnormalities
- Bone re-absorption of the ends of the fingers and toes (acro-osteolysis)
There have been less than 50 cases of acrogeria, Gottron type reported in the literature. In general, the symptoms of acrogeria, Gottron type do not get worse over time and people with this condition have average intelligence.[2][3]
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 | ||
Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ] |
0002213 |
Irregular hyperpigmentation | 0007400 | |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Lipoatrophy |
Loss of fat tissue in localized area
|
0100578 |
Decreased body height
Small stature
[ more ] |
0004322 | |
Thin skin | 0000963 | |
30%-79% of people have these symptoms | ||
Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ] |
0000444 |
Excessive wrinkled skin | 0007392 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
0002650 | ||
Short foot |
Short feet
Small feet
[ more ] |
0001773 |
Small hand |
Disproportionately small hands
|
0200055 |
Telangiectasia of the skin | 0100585 | |
5%-29% of people have these symptoms | ||
Skeletal dysplasia | 0002652 | |
Skin ulcer |
Open skin sore
|
0200042 |
Diagnosis
Treatment
Specialists who may be involved in the care of someone with acrogeria, Gottron type include:
Dermatologist Orthopedist Medical geneticist
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
- 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 Acrogeria, Gottron type. Click on the link to view a sample search on this topic.
References
- Sanghi S, GrewalRS, Vasudevan B, Nagure A. A rare case of acrogeria. Med J Armed Forces India. 2013; 69(4):406-408. https://pubmed.ncbi.nlm.nih.gov/24600155.
- Maroofian R, Murdocca M, Rezaei-Delui H, et al. A novel in-frame deletion in ZMPSTE24 is associated with autosomal recessive acrogeria (Gottron type) in an extended consanguineous family. Clin Dysmorph. 2018; 27(3):88-90. https://pubmed.ncbi.nlm.nih.gov/29595749.
- Hadj-Rabia S, Mashiah J, Roll P, et al. A new lamin a mutation associated with acrogeria syndrome. J Invest Dermatol. 2014; 134(8):2274-2277. https://pubmed.ncbi.nlm.nih.gov/24687084.
- Hashimoto C, Abe M, Onozwa N, Yokoyama Y, Ishikawa O. Acrogeria (Gottron type): a vascular disorder?. Br J Dermatol. 2004; 151(2):497-501. https://pubmed.ncbi.nlm.nih.gov/15327562.
- Blaszczyk M, Depaepe A, Nuytinck L, Glinska-Ferenz M, Jablonska S. Acrogeria of the Gottron type in a mother and son. Eur J Dermatol. 2000; 10(1):36-40. https://pubmed.ncbi.nlm.nih.gov/10694296.
- Gottron syndrome. National Organization for Rare Disorders. 2005; https://rarediseases.org/rare-diseases/gottron-syndrome. Accessed 12/13/2010.
- Ahmad SM, Majeed I. Familial acrogeria in a brother and sister. Indian J Dermatol Venereol Leprol. 2003 May-Jun; 69(3):227-228. https://pubmed.ncbi.nlm.nih.gov/17642895.
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