Imperforate oropharynx-costo vetebral anomalies

Title

Other Names:

Seghers syndrome

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: 2759

Definition

Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.

Visit the Orphanet disease page for more resources.

Last updated: 5/1/2018

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.

Showing of 22 |

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormality of the pharynx		0000600
Abnormality of the philtrum		0000288
Hemivertebrae	Missing part of vertebrae	0002937
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Missing ribs	Absent ribs Decreased rib number [ more ]	0000921
Posteriorly rotated ears	Ears rotated toward back of head	0000358
Recurrent respiratory infections	Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ]	0002205
Respiratory distress	Breathing difficulties Difficulty breathing [ more ]	0002098
Respiratory failure		0002878
30%-79% of people have these symptoms
Abnormality of the antitragus		0009896
Aplasia/Hypoplasia of the tongue		0010295
Arachnodactyly	Long slender fingers Spider fingers [ more ]	0001166
Choanal atresia	Blockage of the rear opening of the nasal cavity Obstruction of the rear opening of the nasal cavity [ more ]	0000453
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Joint hyperflexibility	Joints move beyond expected range of motion	0005692
Long palm		0011302
Overfolded helix	Overfolded ears	0000396
Polyhydramnios	High levels of amniotic fluid	0001561
Premature birth	Premature delivery of affected infants Preterm delivery [ more ]	0001622
Wide nasal bridge	Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ]	0000431

Showing of 22 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 3/1/2020

Do you have updated information on this disease? We want to hear from you.

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.

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.

You can help advance
rare disease research! You can help advance rare disease research!