Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.



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

Phenotype(s) retrieved from Orphanet

    Total: 21

HPO ID Term Frequency
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000402 Stenosis of the external auditory canal Very frequent (99-80%)
HP:0000405 Conductive hearing impairment Very frequent (99-80%)
HP:0002002 Deep philtrum Very frequent (99-80%)
HP:0003019 Abnormality of the wrist Very frequent (99-80%)
HP:0003022 Hypoplasia of the ulna Very frequent (99-80%)
HP:0003031 Ulnar bowing Very frequent (99-80%)
HP:0005105 Abnormal nasal morphology Very frequent (99-80%)
HP:0005288 Abnormality of the nares Very frequent (99-80%)
HP:0005792 Short humerus Very frequent (99-80%)
HP:0006420 Asymmetric radial dysplasia Very frequent (99-80%)
HP:0008551 Microtia Very frequent (99-80%)
HP:0009601 Aplasia/Hypoplasia of the thumb Very frequent (99-80%)
HP:0009813 Upper limb phocomelia Very frequent (99-80%)
HP:0009896 Abnormality of the antitragus Very frequent (99-80%)
HP:0009906 Aplasia/Hypoplasia of the earlobes Very frequent (99-80%)
HP:0010038 Short 2nd metacarpal Very frequent (99-80%)
HP:0011675 Arrhythmia Very frequent (99-80%)
HP:0100257 Ectrodactyly Very frequent (99-80%)
HP:0004059 Radial club hand Frequent (79-30%)
HP:0006482 Abnormality of dental morphology 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