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

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

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

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Aplasia/Hypoplasia of the thumb	Very frequent (present in 80%-99% of cases)
Facial asymmetry	Very frequent (present in 80%-99% of cases)
Laryngeal stridor	Very frequent (present in 80%-99% of cases)
Microtia	Very frequent (present in 80%-99% of cases)
Short mandibular rami	Very frequent (present in 80%-99% of cases)
Abnormality of the middle ear ossicles	Frequent (present in 30%-79% of cases)
Atresia of the external auditory canal	Frequent (present in 30%-79% of cases)
Cognitive impairment	Frequent (present in 30%-79% of cases)
Distal urethral duplication	Frequent (present in 30%-79% of cases)
EMG: myopathic abnormalities	Frequent (present in 30%-79% of cases)
Preauricular pit	Frequent (present in 30%-79% of cases)
Preauricular skin tag	Frequent (present in 30%-79% of cases)
Renal hypoplasia/aplasia	Frequent (present in 30%-79% of cases)
Sensorineural hearing impairment	Frequent (present in 30%-79% of cases)
Vesicoureteral reflux	Frequent (present in 30%-79% of cases)
Aplasia/Hypoplasia affecting the eye	Occasional (present in 5%-29% of cases)
Aplasia/Hypoplasia of the lungs	Occasional (present in 5%-29% of cases)
Conductive hearing impairment	Occasional (present in 5%-29% of cases)
Ectopic anus	Occasional (present in 5%-29% of cases)
Maternal diabetes	Occasional (present in 5%-29% of cases)
Non-midline cleft lip	Occasional (present in 5%-29% of cases)
Triphalangeal thumb	Occasional (present in 5%-29% of cases)
Wide mouth	Occasional (present in 5%-29% of cases)
Autosomal dominant inheritance	-
Complete duplication of thumb phalanx	-

Last updated: 9/1/2017

Do you have updated information on this condition? Let us know.

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.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics 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 GeneTests, 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.

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

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
Young Investigator Initiative Career Development and Grant Mentoring Program
June 21, 2016

GARD Answers GARD Answers

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.