Rare Disease Library

Deafness-ear malformation-facial palsy syndrome

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

Abruzzo-Erickson syndrome

CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Bilateral microtia-deafness-cleft palate syndrome

Bilateral microtia-hearing loss-cleft palate syndrome

Blepharonasofacial malformation syndrome

Pashayan syndrome · Pashayan-Pruzansky syndrome

Cardiospondylocarpofacial syndrome

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

Cleft lip/palate-deafness-sacral lipoma syndrome

Cleft lip/palate-hearing loss-sacral lipoma syndrome · Lowry-Yong syndrome

Conductive deafness-malformed external ear syndrome

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

Congenital hereditary facial paralysis-variable hearing loss syndrome

Congenital hereditary facial paralysis-variable deafness syndrome · Congenital hereditary facial palsy with variable deafness

Craniofacial-deafness-hand syndrome

CDHS · Sommer-Young-Wee-Frye syndrome

Dandy-Walker malformation-facial hemangioma syndrome

Deafness-craniofacial syndrome

Hearing loss-craniofacial syndrome

Developmental malformations-deafness-dystonia syndrome

Developmental malformations-hearing loss-dystonia syndrome

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Edinburgh malformation syndrome

Typus Edinburgensis

Jervell and Lange-Nielsen syndrome

Long QT interval-deafness syndrome · Long QT interval-hearing loss syndrome

Lowe-Kohn-Cohen syndrome

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

Lower limb malformation-hypospadias syndrome

Fried-Goldberg-Mundel syndrome

Nephrosis-deafness-urinary tract-digital malformations syndrome

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

Palmoplantar keratoderma-deafness syndrome

PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome

Paralytic facial malformation

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

Rare developmental defect during embryogenesis

Malformation syndrome

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome

Split hand-split foot-deafness syndrome

Split hand-split foot-hearing loss 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

Verloove Vanhorick-Brubakk syndrome

Cleft lip-limb and heart malformations syndrome