Cooper-Jabs syndrome

A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987.



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

Phenotype(s) retrieved from Orphanet

    Total: 26

HPO ID Term Frequency
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000272 Malar flattening Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Very frequent (99-80%)
HP:0000370 Abnormality of the middle ear Very frequent (99-80%)
HP:0000405 Conductive hearing impairment Very frequent (99-80%)
HP:0000413 Atresia of the external auditory canal Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001545 Anteriorly placed anus Very frequent (99-80%)
HP:0001629 Ventricular septal defect Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0009623 Proximal placement of thumb Very frequent (99-80%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000772 Abnormality of the ribs Frequent (79-30%)
HP:0000776 Congenital diaphragmatic hernia Frequent (79-30%)
HP:0000921 Missing ribs Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001537 Umbilical hernia Frequent (79-30%)
HP:0002093 Respiratory insufficiency Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0003272 Abnormality of the hip bone Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0004349 Reduced bone mineral density Frequent (79-30%)
HP:0005692 Joint hyperflexibility Frequent (79-30%)
HP:0007477 Abnormal dermatoglyphics Frequent (79-30%)
HP:0100490 Camptodactyly of finger 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