Deafness-epiphyseal dysplasia-short stature syndrome

This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).



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Total: 0 (papers)
  


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

Phenotype(s) retrieved from Orphanet

    Total: 19

HPO ID Term Frequency
HP:0000365 Hearing impairment Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0006499 Abnormality of femoral epiphysis Very frequent (99-80%)
HP:0000023 Inguinal hernia Frequent (79-30%)
HP:0000307 Pointed chin Frequent (79-30%)
HP:0000325 Triangular face Frequent (79-30%)
HP:0000470 Short neck Frequent (79-30%)
HP:0000545 Myopia Frequent (79-30%)
HP:0000579 Nasolacrimal duct obstruction Frequent (79-30%)
HP:0001256 Intellectual disability, mild Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0001537 Umbilical hernia Frequent (79-30%)
HP:0003307 Hyperlordosis Frequent (79-30%)
HP:0003312 Abnormal form of the vertebral bodies Frequent (79-30%)
HP:0010306 Short thorax Frequent (79-30%)
HP:0000541 Retinal detachment Occasional (29-5%)
HP:0001156 Brachydactyly Occasional (29-5%)
HP:0002007 Frontal bossing Occasional (29-5%)
HP:0002167 Neurological speech impairment Occasional (29-5%)


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