Rare Disease Library

Palmoplantar keratoderma-deafness syndrome

PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome

Abruzzo-Erickson syndrome

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

Acrokeratoelastoidosis of Costa

AKE · PPKP3

Albinism-deafness syndrome

Albinism-hearing loss syndrome

Aquagenic palmoplantar keratoderma

Aquagenic keratoderma · Transient reactive papulotranslucent acrokeratoderma

Bilateral microtia-deafness-cleft palate syndrome

Bilateral microtia-hearing loss-cleft palate syndrome

Branchiogenic deafness syndrome

Mégarbané-Loiselet syndrome · Branchiogenic hearing loss syndrome

Carvajal syndrome

Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome · Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

Cataract-ataxia-deafness syndrome

Cataract-ataxia-hearing loss syndrome

CEDNIK syndrome

Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome

Cleft lip/palate-deafness-sacral lipoma syndrome

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

Deafness-craniofacial syndrome

Hearing loss-craniofacial syndrome

Deafness-ear malformation-facial palsy syndrome

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

Deafness-hypogonadism syndrome

Hearing loss-hypogonadism syndrome

Deafness-infertility syndrome

Hearing loss-infertility syndrome · DIS

Deafness-lymphedema-leukemia syndrome

Hearing loss-lymphedema-leukemia syndrome · Emberger syndrome

Deafness-oligodontia syndrome

Hearing loss-oligodontia syndrome

Diffuse palmoplantar keratoderma

Diffuse PPK · Diffuse keratosis palmoplantaris

Diffuse palmoplantar keratoderma-acrocyanosis syndrome

Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome

Diffuse palmoplantar keratoderma, Bothnian type

Diffuse palmoplantar keratoderma, Bothnia type · NEPPK, Bothnian type

Ectodermal dysplasia-sensorineural deafness syndrome

Ectodermal dysplasia-sensorineural hearing loss syndrome

Epidermolytic palmoplantar keratoderma

Diffuse erythrodermic palmoplantar keratoderma, Voerner type · Diffuse erythrodermic palmoplantar keratoderma, Vörner type

Focal palmoplantar and gingival keratoderma

Focal palmoplantar and gingival hyperkeratosis

Focal palmoplantar keratoderma

Focal PPK · Focal keratosis palmoplantaris

Focal palmoplantar keratoderma with joint keratoses

Haim-Munk syndrome

Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome · Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome

Hereditary painful callosities

Keratosis palmoplantaris nummularis · PPK nummularis

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

Hereditary palmoplantar keratoderma, Gamborg-Nielsen type

Hereditary palmoplantar hyperkeratosis, Gamborg-Nielsen type · PPK, Gamborg-Nielsen type

Huriez syndrome

Palmoplantar keratoderma-sclerodactyly syndrome · Palmoplantar hyperkeratosis-sclerodactyly syndrome

Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Shaheen syndrome

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

HOPP syndrome · Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome

Isolated diffuse palmoplantar keratoderma

Isolated diffuse PPK · Isolated diffuse keratosis palmoplantaris

Isolated focal palmoplantar keratoderma

Isolated focal PPK · Isolated focal keratosis palmoplantaris

Isolated punctate palmoplantar keratoderma

Isolated punctate PPK · Isolated punctate palmoplantar hyperkeratosis

Jervell and Lange-Nielsen syndrome

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

Keratoderma hereditarium mutilans

Mutilating keratoderma plus hearing loss · Mutilating keratoderma of Vohwinkel

Keratosis palmaris et plantaris-clinodactyly syndrome

Palmoplantar keratoderma-clinodactyly syndrome

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

Bart-Pumphrey syndrome · Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome

Leukoencephalopathy-palmoplantar keratoderma syndrome

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

Marginal papular palmoplantar keratoderma

Marginal papular palmoplantar hyperkeratosis

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Mutilating palmoplantar keratoderma with periorificial keratotic plaques

Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques · Olmsted syndrome

Palmoplantar keratoderma with tonotubular keratin