Rare Disease Library

Pelvic dysplasia-arthrogryposis of lower limbs syndrome

Ray-Peterson-Scott syndrome

Aarskog-Scott syndrome

Aarskog syndrome · Faciodigitogenital syndrome

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

Classic stiff person syndrome

Classic SPS · Classic stiff man syndrome

Coxopodopatellar syndrome

Ischiopubicpatellar syndrome · Ischiocoxopodopatellar syndrome

FATCO syndrome

Hecht-Scott syndrome · Fibular aplasia-tibial campomelia-oligosyndactyly syndrome

Focal stiff limb syndrome

Focal stiff-person syndrome · Stiff leg syndrome

Laryngeal abductor paralysis-intellectual disability syndrome

Plott syndrome

Osteosclerotic bone dysplasia

Raine syndrome

Palmoplantar keratoderma-esophageal carcinoma syndrome

Bennion-Patterson syndrome · Howell-Evans syndrome

Patterson-Stevenson-Fontaine syndrome

Patterson-Stevenson syndrome · Split foot deformity-mandibulofacial dysostosis syndrome

Pearson syndrome

Pearson marrow-pancreas syndrome · PMPS

PEHO syndrome

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy

PENS syndrome

Papular epidermal nevi with skyline basal cell layers syndrome

Perry syndrome

Parkinsonism with alveolar hypoventilation and mental depression

Peters plus syndrome

Krause-Kivlin syndrome · Krause-van Schooneveld-Kivlin syndrome

Pierson syndrome

Microcoria-congenital nephrosis syndrome

Plummer-Vinson syndrome

Kelly-Paterson syndrome · Sideropenic dysphagia

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

Pseudoleprechaunism syndrome, Patterson type

Patterson syndrome · Patterson pseudoleprechaunism syndrome

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

Rett syndrome

Schilbach-Rott syndrome

BRSS · Hypotelorism-cleft palate-hypospadias syndrome

Scott syndrome

Wolcott-Rallison syndrome

Early-onset diabetes mellitus with multiple epiphyseal dysplasia · WRS

X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome

Pettigrew Syndrome