Rare Disease Library

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

OSLAM syndrome

Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome

PEHO-like syndrome

Pollitt syndrome

Trichorrhexis nodosa syndrome · Trichothiodystrophy type C

Pterygium colli-intellectual disability-digital anomalies syndrome

Khalifa-Graham syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome

Liberfarb syndrome

Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome

Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome · Wahab syndrome

Thymoma-hypogammaglobulinemia syndrome

Good syndrome

Toxic epidermal necrolysis

Lyell syndrome

Van der Woude syndrome

Cleft lip/palate with mucous cysts of lower lip · Lip-pit syndrome

W syndrome

Pallister-W syndrome

Wolfram-like syndrome

X-linked dystonia-parkinsonism

DYT3 · Lubag