Aniridia-absent patella syndrome

A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.



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

Phenotype(s) retrieved from Orphanet

    Total: 8

HPO ID Term Frequency
HP:0000526 Aniridia Very frequent (99-80%)
HP:0006498 Aplasia/Hypoplasia of the patella Very frequent (99-80%)
HP:0000023 Inguinal hernia Frequent (79-30%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000501 Glaucoma Frequent (79-30%)
HP:0000508 Ptosis Frequent (79-30%)
HP:0000518 Cataract Frequent (79-30%)
HP:0001252 Muscular hypotonia 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