Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

50 matching diseasesClear search ×

Palmoplantar keratoderma-deafness syndrome

PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome

ORPHA:2202

Acrokeratoelastoidosis of Costa

AKE · PPKP3

ORPHA:38

Autosomal dominant diffuse mutilating palmoplantar keratoderma

Autosomal dominant diffuse mutilating palmoplantar hyperkeratosis

ORPHA:307773

Carvajal syndrome

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

ORPHA:65282

CEDNIK syndrome

Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome

ORPHA:66631

Circumscribed palmoplantar hypokeratosis

Circumscribed acral hypokeratosis

ORPHA:69744

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome

ORPHA:352662

De Hauwere syndrome

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

ORPHA:1831

Deafness-hypogonadism syndrome

Hearing loss-hypogonadism syndrome

ORPHA:90646

Diffuse palmoplantar keratoderma

Diffuse PPK · Diffuse keratosis palmoplantaris

ORPHA:307141

Diffuse palmoplantar keratoderma-acrocyanosis syndrome

Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome

ORPHA:86918

Disease with diffuse palmoplantar keratoderma as a major feature

Disease with diffuse palmoplantar hyperkeratosis as a major feature

ORPHA:307711

Disease with focal palmoplantar keratoderma as a major feature

Disease with focal palmoplantar hyperkeratosis as a major feature

ORPHA:307871

Focal acral hyperkeratosis

Punctate palmoplantar hyperkeratosis type 3 without elastoidosis · Punctate palmoplantar keratoderma type 3 without elastoidosis

ORPHA:308013

Focal palmoplantar and gingival keratoderma

Focal palmoplantar and gingival hyperkeratosis

ORPHA:2200

Focal palmoplantar keratoderma

Focal PPK · Focal keratosis palmoplantaris

ORPHA:307837

Haim-Munk syndrome

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

ORPHA:2342

Hereditary painful callosities

Keratosis palmoplantaris nummularis · PPK nummularis

ORPHA:79141

Hereditary palmoplantar keratoderma

Hereditary PPK · Hereditary keratosis palmoplantaris

ORPHA:79357

Hereditary palmoplantar keratoderma, Gamborg-Nielsen type

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

ORPHA:86923

Huriez syndrome

Palmoplantar keratoderma-sclerodactyly syndrome · Palmoplantar hyperkeratosis-sclerodactyly syndrome

ORPHA:384

Hyperkeratosis-hyperpigmentation syndrome

ORPHA:1336

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

ORPHA:324561

Hypotrichosis-deafness syndrome

Hypotrichosis-hearing loss syndrome

ORPHA:330029

Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

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

ORPHA:307936

Isolated diffuse palmoplantar keratoderma

Isolated diffuse PPK · Isolated diffuse keratosis palmoplantaris

ORPHA:307148

Isolated focal palmoplantar keratoderma

Isolated focal PPK · Isolated focal keratosis palmoplantaris

ORPHA:307846

Isolated punctate palmoplantar keratoderma

Isolated punctate PPK · Isolated punctate palmoplantar hyperkeratosis

ORPHA:2338

Keratosis palmaris et plantaris-clinodactyly syndrome

Palmoplantar keratoderma-clinodactyly syndrome

ORPHA:86919

KID syndrome

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

ORPHA:477

Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

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

ORPHA:2698

Leukoencephalopathy-palmoplantar keratoderma syndrome

ORPHA:2386

Marginal papular palmoplantar keratoderma

Marginal papular palmoplantar hyperkeratosis

ORPHA:307995

Naxos disease

KWWH type I · Keratoderma with woolly hair type I

ORPHA:34217

Palmoplantar keratoderma-esophageal carcinoma syndrome

Bennion-Patterson syndrome · Howell-Evans syndrome

ORPHA:2198

Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome

Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome

ORPHA:538574

Palmoplantar keratoderma-spastic paralysis syndrome

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

ORPHA:2201

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

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

ORPHA:85112

Palmoplantar keratoderma, Nagashima type

PPK, Nagashima type · Palmoplantar hyperkeratosis, Nagashima type

ORPHA:140966

Papillon-Lefèvre syndrome

Keratosis palmoplantar-periodontopathy syndrome · PLS

ORPHA:678

Punctate palmoplantar keratoderma

Punctate PPK · Punctate keratosis palmoplantaris

ORPHA:307967

Punctate palmoplantar keratoderma type 2

PPKP2 · PPPP

ORPHA:79502

Restrictive dermopathy

Lethal restrictive dermopathy · Lethal hyperkeratosis-contracture syndrome

ORPHA:1662

Schöpf-Schulz-Passarge syndrome

Eccrine tumors-ectodermal dysplasia · Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome

ORPHA:50944

Skin fragility-woolly hair-palmoplantar keratoderma syndrome

Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome

ORPHA:293165

Spastic paraparesis-deafness syndrome

Wells-Jankovic syndrome · Spastic paraparesis-hearing loss syndrome

ORPHA:2815

Striate palmoplantar keratoderma

Keratosis palmoplantaris striata et areata · Keratosis palmoplantaris varians of Wachters

ORPHA:50942

Tietz syndrome

Hypopigmentation-deafness syndrome · Hypopigmentation-hearing loss syndrome

ORPHA:42665