Absent radius-anogenital anomalies syndrome

A rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.



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

Phenotype(s) retrieved from Orphanet

    Total: 9

HPO ID Term Frequency
HP:0000238 Hydrocephalus Very frequent (99-80%)
HP:0001562 Oligohydramnios Very frequent (99-80%)
HP:0002984 Hypoplasia of the radius Very frequent (99-80%)
HP:0012165 Oligodactyly Very frequent (99-80%)
HP:0100257 Ectrodactyly Very frequent (99-80%)
HP:0000143 Rectovaginal fistula Frequent (79-30%)
HP:0002023 Anal atresia Frequent (79-30%)
HP:0004871 Perineal fistula Frequent (79-30%)
HP:0025023 Rectal atresia 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