Rare Disease Library

PFAPA syndrome

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

Pfeiffer syndrome

ACS5 · Acrocephalosyndactyly type 5

Pfeiffer syndrome type 1

Classic Pfeiffer syndrome

Pfeiffer syndrome type 2

Pfeiffer syndrome type 3

Pfeiffer-Palm-Teller syndrome

PHACE syndrome

Pascual-Castroviejo syndrome type 2 · PHACES syndrome

PHAVER syndrome

Powell-Chandra-Saal 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

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Potocki-Shaffer syndrome

11p11.2 deletion · Proximal 11p deletion syndrome

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

Progressive supranuclear palsy

PSP syndrome

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Sandifer syndrome

Serpentine fibula-polycystic kidneys syndrome

Exner syndrome

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

Trigonocephaly-short stature-developmental delay syndrome

Say-Meyer syndrome

Trisomy 13 syndrome

Patau syndrome

Usher syndrome

Retinitis pigmentosa-deafness syndrome · USH

W syndrome

Pallister-W syndrome