Rare Disease Library

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia

Carvajal syndrome

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

CEDNIK syndrome

Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome

Corneal dystrophy

Corneal dystrophy-perceptive deafness syndrome

CDPD · Corneal dystrophy with progressive deafness

Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome

Diffuse palmoplantar keratoderma

Diffuse PPK · Diffuse keratosis palmoplantaris

Diffuse palmoplantar keratoderma-acrocyanosis syndrome

Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome

Focal palmoplantar keratoderma

Focal PPK · Focal keratosis palmoplantaris

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

Huriez syndrome

Palmoplantar keratoderma-sclerodactyly syndrome · Palmoplantar hyperkeratosis-sclerodactyly syndrome

Isolated diffuse palmoplantar keratoderma

Isolated diffuse PPK · Isolated diffuse keratosis palmoplantaris

Isolated focal palmoplantar keratoderma

Isolated focal PPK · Isolated focal keratosis palmoplantaris

Keratosis follicularis-dwarfism-cerebral atrophy syndrome

Keratosis palmaris et plantaris-clinodactyly syndrome

Palmoplantar keratoderma-clinodactyly syndrome

Leukoencephalopathy-palmoplantar keratoderma syndrome

Palmoplantar keratoderma-deafness syndrome

PPK-deafness syndrome · Palmoplantar hyperkeratosis-deafness 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

Papillon-Lefèvre syndrome

Keratosis palmoplantar-periodontopathy syndrome · PLS

Punctate palmoplantar keratoderma

Punctate PPK · Punctate keratosis palmoplantaris

Schöpf-Schulz-Passarge syndrome

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

Spastic ataxia-corneal dystrophy syndrome

Bedouin spastic ataxia syndrome · Mousa-Al Din-Al Nassar syndrome

Spinocerebellar degeneration-corneal dystrophy syndrome

Der Kaloustian-Jarudi-Khoury syndrome

Spondyloepiphyseal dysplasia, Byers type

Spondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome

Spondylometaphyseal dysplasia-corneal dystrophy syndrome

SMD-corneal dystrophy syndrome

Striate palmoplantar keratoderma

Keratosis palmoplantaris striata et areata · Keratosis palmoplantaris varians of Wachters

Stromal corneal dystrophy

Syndromic corneal dystrophy

Woolly hair-palmoplantar keratoderma syndrome

Woolly hair-palmoplantar hyperkeratosis syndrome · KWWH type IV

X-linked corneal dermoid

Corneal dystrophy epithelial-short stature syndrome · Guízar Vázquez-Luengas-Muñoz syndrome