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

Autosomal dominant diffuse mutilating palmoplantar keratoderma

Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis

Björnstad syndrome

Deafness-pili torti-hypogonadism syndrome · Hearing loss-pili torti-hypogonadism 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

Cataract-deafness-hypogonadism syndrome

Cataract-hearing loss-hypogonadism syndrome · Schaap-Taylor-Baraitser syndrome

Circumscribed palmoplantar hypokeratosis

Circumscribed acral hypokeratosis

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome

Crandall syndrome

Alopecia-deafness-hypogonadism syndrome · Alopecia-sensorineural deafness-hypogonadism syndrome

Cutaneous mastocytosis-deafness-microtia syndrome

Mastocytosis-short stature-hearing loss syndrome · Cutaneous mastocytosis-hearing loss-microtia syndrome

De Hauwere syndrome

De Hauwere-Chitty syndrome · Iris dysplasia-hypertelorism-deafness 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-oligodontia syndrome

Hearing loss-oligodontia syndrome

Diffuse palmoplantar keratoderma

Diffuse PPK · Diffuse keratosis palmoplantaris

Diffuse palmoplantar keratoderma-acrocyanosis syndrome

Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome

Focal palmoplantar and gingival keratoderma

Focal palmoplantar and gingival hyperkeratosis

Focal palmoplantar keratoderma

Focal PPK · Focal keratosis palmoplantaris

Gingival fibromatosis-progressive deafness syndrome

Jones syndrome · Gingival fibromatosis-progressive hearing loss syndrome

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

Hyperkeratosis-hyperpigmentation 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

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

Nephropathy-deafness-hyperparathyroidism syndrome

Edwards-Patton-Dilly syndrome · Nephropathy-hearing loss-hyperparathyroidism syndrome

Palmoplantar keratoderma-esophageal carcinoma syndrome

Bennion-Patterson syndrome · Howell-Evans syndrome

Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome

Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome

Palmoplantar keratoderma-spastic paralysis syndrome

Palmoplantar hyperkeratosis-spastic paralysis syndrome · Powell-Venencie-Gordon syndrome

Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome

Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome

Palmoplantar keratoderma, Nagashima type

PPK, Nagashima type · Palmoplantar hyperkeratosis, Nagashima type