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Ring chromosome 10


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Other Names:
Chromosome 10 ring; Ring 10; R10
Categories:
Chromosome Disorders; Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary


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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1438

Definition
An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases.

Visit the Orphanet disease page for more resources.
Last updated: 2/1/2019

Symptoms Symptoms


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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 24 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the antihelix 0009738
Aganglionic megacolon
Enlarged colon lacking nerve cells
0002251
Cachexia
Wasting syndrome
0004326
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Frontal bossing 0002007
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
Hypocalcemia
Low blood calcium levels
0002901
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation
[ more ]
0001511
Large earlobe
Fleshy earlobe
Fleshy earlobes
Prominent ear lobes
prominent ear lobules
[ more ]
0009748
Long philtrum 0000343
Low-set ears
Low set ears
Lowset ears
[ more ]
0000369
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Microphthalmia
Abnormally small eyeball
0000568
Muscular hypotonia
Low or weak muscle tone
0001252
Pectus excavatum
Funnel chest
0000767
Renal hypoplasia/aplasia
Absent/small kidney
Absent/underdeveloped kidney
[ more ]
0008678
Sandal gap
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ]
0001852
Seizure 0001250
Short neck
Decreased length of neck
0000470
Tapered finger
Tapered fingertips
Tapering fingers
[ more ]
0001182
Thin vermilion border
Decreased volume of lip
Thin lips
[ more ]
0000233
Wide intermamillary distance
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
0006610
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
0000431
Showing of 24 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Organizations Organizations


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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 Supporting this Disease

  • Chromosome Disorder Outreach (CDO)
    PO Box 724
    Boca Raton, FL 33429
    Telephone: +1-561-395-4252
    E-mail: https://chromodisorder.org/contact/
    Website: https://chromodisorder.org/
  • Unique – Rare Chromosome Disorder Support Group
    G1, The Stables
    Station Road West
    Surrey
    RH8 9EE
    United Kingdom
    Telephone: +44 (0)1883 723356
    E-mail: info@rarechromo.org
    Website: https://www.rarechromo.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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.

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.
  • 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 Ring chromosome 10. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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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.

Have a question? Contact a GARD Information Specialist.
You can help advance
rare disease research!
You can help advance rare disease research!
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