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"

15 matching diseasesClear search ×

Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

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

ORPHA:2698

CEDNIK syndrome

Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome

ORPHA:66631

Diffuse palmoplantar keratoderma-acrocyanosis syndrome

Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome

ORPHA:86918

Ectodermal dysplasia-sensorineural deafness syndrome

Ectodermal dysplasia-sensorineural hearing loss syndrome

ORPHA:1883

Haim-Munk syndrome

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

ORPHA:2342

High myopia-sensorineural deafness syndrome

High myopia-sensorineural hearing loss syndrome

ORPHA:363396

Huriez syndrome

Palmoplantar keratoderma-sclerodactyly syndrome · Palmoplantar hyperkeratosis-sclerodactyly syndrome

ORPHA:384

Keratosis palmaris et plantaris-clinodactyly syndrome

Palmoplantar keratoderma-clinodactyly syndrome

ORPHA:86919

Leukoencephalopathy-palmoplantar keratoderma syndrome

ORPHA:2386

Palmoplantar keratoderma-deafness syndrome

PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness syndrome

ORPHA:2202

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

Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome

PLACK syndrome

ORPHA:444138

Woolly hair-palmoplantar keratoderma syndrome

Woolly hair-palmoplantar hyperkeratosis syndrome · KWWH type IV

ORPHA:420686