Otofaciocervical syndrome

Title

Categories:

Congenital and Genetic Diseases

Summary Summary

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

Orpha Number: 2792

Disease definition

Otofaciocervical syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by distinct facial features (long triangular face, broad forehead, narrow nose and mandible, high arched palate), prominent, dysmorphic ears (low-set and cup-shaped with large conchae and hypoplastic tragus, antitragus and lobe), long neck, preauricular and/or branchial fistulas and/or cysts, hypoplastic cervical muscles with sloping shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit. Vertebral defects and short stature may also be associated.

Visit the Orphanet disease page for more resources.

Last updated: 5/26/2017

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
Abnormal dermatoglyphics	Abnormal fingerprints	0007477
Abnormality of the clavicle	Abnormal collarbone	0000889
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Conductive hearing impairment	Conductive deafness Conductive hearing loss [ more ]	0000405
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Down-sloping shoulders	Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ]	0200021
Full cheeks	Apple cheeks Big cheeks Increased size of cheeks Large cheeks [ more ]	0000293
Global developmental delay		0001263
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hyperreflexia	Increased reflexes	0001347
Hypertonia		0001276
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Macrotia	Large ears	0000400
Neurological speech impairment	Speech disorder Speech impairment Speech impediment [ more ]	0002167
Preauricular pit	Pit in front of the ear	0004467
Protruding ear	Prominent ear Prominent ears [ more ]	0000411
Scapular winging	Winged shoulder blade	0003691
Short stature	Decreased body height Small stature [ more ]	0004322
30%-79% of people have these symptoms
Abnormality of the antihelix		0009738
Delayed skeletal maturation	Delayed bone maturation Delayed skeletal development [ more ]	0002750
5%-29% of people have these symptoms
Atresia of the external auditory canal	Absent ear canal	0000413
Facial asymmetry	Asymmetry of face Crooked face Unsymmetrical face [ more ]	0000324
Renal hypoplasia/aplasia	Absent/small kidney Absent/underdeveloped kidney [ more ]	0008678

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Last updated: 3/1/2019

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Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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