Rare Disease Library

Lowe-Kohn-Cohen syndrome

Deafness-nephritis-ano-rectal malformation syndrome · Hearing loss-nephritis-ano-rectal malformation syndrome

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Anorectal malformation

ARM

Cardiospondylocarpofacial syndrome

Forney-Robinson-Pascoe syndrome · Mitral regurgitation-deafness-skeletal anomalies syndrome

Conductive deafness-malformed external ear syndrome

Conductive hearing loss-malformed external ear syndrome · Mengel-Konigsmark syndrome

Deafness-ear malformation-facial palsy syndrome

Sellars-Beighton syndrome · Hearing loss-ear malformation-facial palsy syndrome

Developmental malformations-deafness-dystonia syndrome

Developmental malformations-hearing loss-dystonia syndrome

Duane retraction syndrome with congenital deafness

Duane retraction syndrome with congenital hearing loss · DURS with hearing loss

Nephrosis-deafness-urinary tract-digital malformations syndrome

Braun-Bayer syndrome · Nephrosis-hearing loss-urinary tract-digital malformations syndrome

Non-syndromic anal stenosis

Non-syndromic ARM with anal stenosis · Non-syndromic anorectal malformation with anal stenosis

Non-syndromic anorectal malformation

Non-syndromic ARM

Non-syndromic anorectal malformation without fistula

Non-syndromic ARM without fistula · Non-syndromic anorectal malformation with no fistula

Non-syndromic H-type fistula

Non-syndromic ARM with H-type fistula · Non-syndromic anorectal malformation with H-type fistula

Non-syndromic perineal fistula

Non-syndromic anorectal malformation with perineal fistula · Non-syndromic ARM with perineal fistula

Non-syndromic pouch colon

Non-syndromic ARM with pouch colon · Non-syndromic anorectal malformation with pouch colon

Non-syndromic rectal atresia

Non-syndromic ARM with rectal atresia · Non-syndromic anorectal malformation with rectal atresia

Non-syndromic rectal stenosis

Non-syndromic ARM with rectal stenosis · Non-syndromic anorectal malformation with rectal stenosis

Non-syndromic rectourethral fistula

Non-syndromic ARM with rectourethral fistula · Non-syndromic anorectal malformation with rectourethral fistula

Non-syndromic rectourethral fistula, bulbar type

Non-syndromic ARM with rectourethral fistula, bulbar type · Non-syndromic anorectal malformation with rectobulbar fistula

Non-syndromic rectourethral fistula, prostatic type

Non-syndromic ARM with rectourethral fistula, prostatic type · Non-syndromic anorectal malformation with rectoprostatic fistula

Non-syndromic rectovaginal fistula

Non-syndromic ARM with rectovaginal fistula · Non-syndromic anorectal malformation with rectovaginal fistula

Non-syndromic rectovesical fistula

Non-syndromic ARM with rectovesical fistula · Non-syndromic anorectal malformation with bladder neck fistula

Rare congenital non-syndromic heart malformation

Rare developmental defect during embryogenesis

Malformation syndrome

Spastic paraplegia-nephritis-deafness syndrome

Spastic paraplegia-nephritis-hearing loss syndrome · Fitzsimmons-Walson-Mellor syndrome

Split-foot malformation-mesoaxial polydactyly syndrome

SFMMP · Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome

Tietz syndrome

Hypopigmentation-deafness syndrome · Hypopigmentation-hearing loss syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

Verloove Vanhorick-Brubakk syndrome

Cleft lip-limb and heart malformations syndrome