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

Acrogeria, Gottron type


Other Names:
Metageria; Acrometageria; Familial acrogeria; Metageria; Acrometageria; Familial acrogeria; Acrogeria; Gottron syndrome See More
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Acrogeria, Gottron type is a premature aging syndrome which includes fragile, thin skin on the hands, feet and face and slow growth. Other symptoms include visible blood vessels, easy bruising, and hair and nail abnormalities.  In general, the symptoms do not appear to get worse over time. Intelligence is normal. The cause is unknown, although several genes have been associated with it. Both autosomal recessive and autosomal dominant inheritance have been reported. Diagnosis is based on a clinical exam and the symptoms. Treatment is focused on managing the symptoms.[1][2][3][4]
Last updated: 6/19/2020
The following list includes the most common signs and symptoms in acrogeria, Gottron type. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

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]
Last updated: 6/19/2020

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.

Showing of 16 |
Medical Terms Other Names
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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
Short stature
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
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Scoliosis 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
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Last updated: 7/1/2020
The cause of acrogeria, Gottron type is unclear. In a few cases, it has been reported to occur when either the LMNA, ZMPSTE24, or COL3A1 gene are not working correctly.[2][3] DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all. 
Last updated: 6/19/2020
Acrogeria, Gottron type is not usually inherited in families, and occurs as an isolated case.  In a few families, it has been inherited as either an autosomal recessive or autosomal dominant pattern.[2][5]
Last updated: 6/19/2020
Acrogeria, Gottron type is diagnosed through a clinical examination. Other more common conditions may need to be excluded first. Genetic testing may be helpful as well.[6]
Last updated: 6/19/2020
Treatment for acrogeria, Gottron type is focused on managing the symptoms.[6] 

Specialists who may be involved in the care of someone with acrogeria, Gottron type include:
  • Dermatologist
  • Orthopedist
  • Medical geneticist
Last updated: 6/19/2020
Less than 50 cases of acrogeria, Gottron type have been reported in the literature. Females are more often affected than males. The exact number of people with this condition is unknown.[2] 
Last updated: 6/19/2020

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

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.

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  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. Gottron syndrome. National Organization for Rare Disorders. 2005; https://rarediseases.org/rare-diseases/gottron-syndrome. Accessed 12/13/2010.
  7. 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.