Rare Disease Library

PENS syndrome

Papular epidermal nevi with skyline basal cell layers syndrome

Perlman syndrome

Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome

Perrault syndrome

XX gonadal dysgenesis-hearing loss syndrome · XX gonadal dysgenesis-deafness syndrome

Perrault syndrome type 2

XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations

Perry syndrome

Parkinsonism with alveolar hypoventilation and mental depression

PFAPA syndrome

Marshall syndrome with periodic fever · Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome

PHACE syndrome

Pascual-Castroviejo syndrome type 2 · PHACES syndrome

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

PMSE syndrome

Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome · PHARC syndrome

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

Progressive supranuclear palsy

PSP syndrome

Ring chromosome 2 syndrome

Ring chromosome 2 · Ring 2

Ring chromosome 22 syndrome

Ring chromosome 22 · Ring 22

Steel syndrome

Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome

Stiff skin syndrome

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

Triple A syndrome

2A syndrome · 3A syndrome

Trisomy 13 syndrome

Patau syndrome

W syndrome

Pallister-W syndrome

Wrinkly skin syndrome

WSS · Wrinkled skin syndrome

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

Pettigrew Syndrome

Young syndrome

Azoospermia-sinopulmonary infections syndrome · Sinusitis-infertility syndrome