Radio-renal syndrome

Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.



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

Phenotype(s) retrieved from Orphanet

    Total: 24

HPO ID Term Frequency
HP:0000003 Multicystic kidney dysplasia Very frequent (99-80%)
HP:0000104 Renal agenesis Very frequent (99-80%)
HP:0000110 Renal dysplasia Very frequent (99-80%)
HP:0000278 Retrognathia Very frequent (99-80%)
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000444 Convex nasal ridge Very frequent (99-80%)
HP:0000470 Short neck Very frequent (99-80%)
HP:0000772 Abnormality of the ribs Very frequent (99-80%)
HP:0001156 Brachydactyly Very frequent (99-80%)
HP:0002094 Dyspnea Very frequent (99-80%)
HP:0002098 Respiratory distress Very frequent (99-80%)
HP:0002202 Pleural effusion Very frequent (99-80%)
HP:0002705 High, narrow palate Very frequent (99-80%)
HP:0002714 Downturned corners of mouth Very frequent (99-80%)
HP:0002878 Respiratory failure Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0002984 Hypoplasia of the radius Very frequent (99-80%)
HP:0003312 Abnormal form of the vertebral bodies Very frequent (99-80%)
HP:0003510 Severe short stature Very frequent (99-80%)
HP:0004279 Short palm Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0008678 Renal hypoplasia/aplasia Very frequent (99-80%)
HP:0009811 Abnormality of the elbow Very frequent (99-80%)
HP:0010310 Chylothorax Very frequent (99-80%)


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