Distal arthrogryposis type 5

Title

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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

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

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

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.

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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

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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

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

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

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.

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Rare Disease Day at NIH 2021
March 1, 2021

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