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Distal arthrogryposis type 5


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Other Names:
Arthrogryposis ophthalmoplegia retinopathy; Oculomelic amyoplasia; Arthrogryposis with oculomotor limitation and electroretinal abnormalities; Arthrogryposis ophthalmoplegia retinopathy; Oculomelic amyoplasia; Arthrogryposis with oculomotor limitation and electroretinal abnormalities; Distal arthrogryposis with ophthalmoplegia; Distal arthrogryposis type IIB; Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome; Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome; Arthogryposis with oculomotor limitation and electroretinal abnormalities See More
Categories:
Congenital and Genetic Diseases
This disease is grouped under:
Distal arthrogryposis; Myosinopathies

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: 1154

Definition
Distal arthrogryposis type 5 is an inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophtalmoplegia and/or strabismus). Intelligence is normal.

Visit the Orphanet disease page for more resources.
Last updated: 2/1/2012

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 41 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Deeply set eye
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
0000490
Dimple chin
Chin butt
Chin dent
Chin dimple
Chin skin dimple
Indentation of chin
[ more ]
0010751
Joint stiffness
Stiff joint
Stiff joints
[ more ]
0001387
Ophthalmoplegia
Eye muscle paralysis
0000602
Pectus excavatum
Funnel chest
0000767
Ptosis
Drooping upper eyelid
0000508
30%-79% of people have these symptoms
Abnormal electroretinogram 0000512
Absent palmar crease
Absent palm lines
0010489
Arachnodactyly
Long slender fingers
Spider fingers
[ more ]
0001166
Bilateral talipes equinovarus
Club foot on both sides
0001776
Congenital finger flexion contractures 0005879
Deviation of finger
Atypical position of finger
Finger pointing in a different direction than usual
[ more ]
0004097
Inguinal hernia 0000023
Macrotia
Large ears
0000400
Optic atrophy 0000648
Triangular face
Face with broad temples and narrow chin
Triangular facial shape
[ more ]
0000325
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ]
0000505
5%-29% of people have these symptoms
Hypermetropia
Farsightedness
Long-sightedness
[ more ]
0000540
Scoliosis 0002650
Percent of people who have these symptoms is not available through HPO
Abnormal rib cage morphology
Abnormality of the rib cage
0001547
Abnormality of retinal pigmentation 0007703
Absent phalangeal crease 0006109
Arthrogryposis multiplex congenita 0002804
Astigmatism
Abnormal curving of the cornea or lens of the eye
0000483
Autosomal dominant inheritance 0000006
Blepharophimosis
Narrow opening between the eyelids
0000581
Clinodactyly
Permanent curving of the finger
0030084
Decreased facial expression 0004673
Decreased muscle mass 0003199
Decreased palmar creases
Shallow palm line
0006184
Distal arthrogryposis 0005684
Duane anomaly 0009921
Epicanthus
Eye folds
Prominent eye folds
[ more ]
0000286
Firm muscles 0003725
High palate
Elevated palate
Increased palatal height
[ more ]
0000218
Keratoconus
Bulging cornea
0000563
Keratoglobus 0001119
Limited wrist extension 0006251
Protruding ear
Prominent ear
Prominent ears
[ more ]
0000411
Restrictive ventilatory defect
Stiff lung or chest wall causing decreased lung volume
0002091
Short stature
Decreased body height
Small stature
[ more ]
0004322
Showing of 41 |
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.

Find a Specialist Find a Specialist


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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

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Research Research


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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

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.
  • 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 Distal arthrogryposis type 5. 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.
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You can help advance rare disease research!
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