Atrioventricular defect-blepharophimosis-radial and anal defect syndrome

A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.



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

Phenotype(s) retrieved from Orphanet

    Total: 22

HPO ID Term Frequency
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000581 Blepharophimosis Very frequent (99-80%)
HP:0001107 Ocular albinism Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0001671 Abnormal cardiac septum morphology Very frequent (99-80%)
HP:0000119 Abnormality of the genitourinary system Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000364 Hearing abnormality Frequent (79-30%)
HP:0000378 Cupped ear Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000486 Strabismus Frequent (79-30%)
HP:0000568 Microphthalmia Frequent (79-30%)
HP:0000582 Upslanted palpebral fissure Frequent (79-30%)
HP:0001336 Myoclonus Frequent (79-30%)
HP:0001545 Anteriorly placed anus Frequent (79-30%)
HP:0002023 Anal atresia Frequent (79-30%)
HP:0003022 Hypoplasia of the ulna Frequent (79-30%)
HP:0003974 Absent radius Frequent (79-30%)
HP:0004209 Clinodactyly of the 5th finger Frequent (79-30%)
HP:0008551 Microtia Frequent (79-30%)
HP:0009601 Aplasia/Hypoplasia of the thumb Frequent (79-30%)
HP:0010035 Aplasia of the 1st metacarpal 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