Imperforate oropharynx-costovertebral anomalies syndrome

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.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 27

HPO ID Term Frequency
HP:0000153 Abnormality of the mouth Very frequent (99-80%)
HP:0000159 Abnormal lip morphology Very frequent (99-80%)
HP:0000288 Abnormality of the philtrum Very frequent (99-80%)
HP:0000358 Posteriorly rotated ears Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000600 Abnormality of the pharynx Very frequent (99-80%)
HP:0000772 Abnormality of the ribs Very frequent (99-80%)
HP:0000921 Missing ribs Very frequent (99-80%)
HP:0002094 Dyspnea Very frequent (99-80%)
HP:0002098 Respiratory distress Very frequent (99-80%)
HP:0002205 Recurrent respiratory infections Very frequent (99-80%)
HP:0002878 Respiratory failure Very frequent (99-80%)
HP:0002937 Hemivertebrae Very frequent (99-80%)
HP:0003312 Abnormal form of the vertebral bodies Very frequent (99-80%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000396 Overfolded helix Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000453 Choanal atresia Frequent (79-30%)
HP:0000494 Downslanted palpebral fissures Frequent (79-30%)
HP:0001166 Arachnodactyly Frequent (79-30%)
HP:0001561 Polyhydramnios Frequent (79-30%)
HP:0001622 Premature birth Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0005692 Joint hyperflexibility Frequent (79-30%)
HP:0009896 Abnormality of the antitragus Frequent (79-30%)
HP:0010295 Aplasia/Hypoplasia of the tongue Frequent (79-30%)
HP:0011302 Long palm Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID