Aniridia-renal agenesis-psychomotor retardation syndrome

An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.



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

Phenotype(s) retrieved from Orphanet

    Total: 16

HPO ID Term Frequency
HP:0000122 Unilateral renal agenesis Very frequent (99-80%)
HP:0000463 Anteverted nares Very frequent (99-80%)
HP:0000486 Strabismus Very frequent (99-80%)
HP:0000506 Telecanthus Very frequent (99-80%)
HP:0001087 Developmental glaucoma Very frequent (99-80%)
HP:0001363 Craniosynostosis Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0002714 Downturned corners of mouth Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0011342 Mild global developmental delay Very frequent (99-80%)
HP:0011498 obsolete Partial aniridia Very frequent (99-80%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0001334 Communicating hydrocephalus Frequent (79-30%)
HP:0007957 Corneal opacity 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