National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Imperforate oropharynx-costo vetebral anomalies



Other Names:
Seghers syndrome
Categories:

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

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

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
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
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Last updated: 7/1/2020

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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