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Microsomia hemifacial radial defects


Title


Other Names:
Hemifacial microsomia with radial defects; Goldenhar syndrome with ipsilateral radial defect; Oculoauriculovertebral spectrum with radial defect; Hemifacial microsomia with radial defects; Goldenhar syndrome with ipsilateral radial defect; Oculoauriculovertebral spectrum with radial defect; OAVS with radial defect; Moeschler Clarren syndrome See More
Categories:
Congenital and Genetic Diseases; Musculoskeletal 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: 2549

Disease definition
Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.

Visit the Orphanet disease page for more resources.
Last updated: 2/1/2017

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 30 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Aplasia/Hypoplasia of the thumb
Absent/small thumb
Absent/underdeveloped thumb
[ more ]
0009601
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
0000324
Laryngeal stridor 0006511
Microtia
Small ears
Underdeveloped ears
[ more ]
0008551
Short mandibular rami 0003778
30%-79% of people have these symptoms
Abnormality of the middle ear ossicles 0004452
Atresia of the external auditory canal
Absent ear canal
0000413
Atrioventricular canal defect 0006695
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
0100543
Distal urethral duplication 0008706
EMG: myopathic abnormalities 0003458
Preauricular pit
Pit in front of the ear
0004467
Preauricular skin tag 0000384
Renal hypoplasia/aplasia
Absent/small kidney
Absent/underdeveloped kidney
[ more ]
0008678
Sensorineural hearing impairment 0000407
Short stature
Decreased body height
Small stature
[ more ]
0004322
Vesicoureteral reflux 0000076
5%-29% of people have these symptoms
Aplasia/Hypoplasia affecting the eye
Absent/small eye
Absent/underdeveloped eye
[ more ]
0008056
Aplasia/Hypoplasia of the lungs
Absent/small lungs
Absent/underdeveloped lungs
[ more ]
0006703
Cleft palate
Cleft roof of mouth
0000175
Conductive hearing impairment
Conductive deafness
Conductive hearing loss
[ more ]
0000405
Ectopic anus
Abnormal anus position
0004397
Maternal diabetes
gestational diabetes
0009800
Non-midline cleft lip 0100335
Preaxial hand polydactyly
Extra thumb
0001177
Triphalangeal thumb
Finger-like thumb
0001199
Wide mouth
Broad mouth
Large mouth
[ more ]
0000154
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Complete duplication of thumb phalanx
Complete duplication of thumb bones
0009943
Hemifacial hypoplasia
Decreased size of half of the face
Decreased size of one side of the face
[ more ]
0011332
Showing of 30 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2019
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 Genetics Home Reference.

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 Microsomia hemifacial radial defects. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • NIH Hosts Rare Disease Day Event, Twitter Chat
    January 24, 2019

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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