Rare Disease Library

Pfeiffer syndrome type 1

Classic Pfeiffer syndrome

Antiphospholipid syndrome

Classic antiphospholipid syndrome · APLS

C syndrome

OTCS · Opitz C trigonocephaly

Cardiocranial syndrome, Pfeiffer type

Craniosynostosis-congenital heart disease-intellectual disability syndrome · Pfeiffer-Singer-Zschiesche syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

CLAPO syndrome

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

Classic progressive supranuclear palsy syndrome

Steele-Richardson-Olszewski disease · Richardson syndrome

Classic stiff person syndrome

Classic SPS · Classic stiff man syndrome

Classical Ehlers-Danlos syndrome

Classical EDS · cEDS

CLOVES syndrome

Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome · Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome

Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome · Pfeiffer-Kapferer syndrome

Facial dysmorphism-shawl scrotum-joint laxity syndrome

Seaver-Cassidy syndrome

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

Sohval-Soffer syndrome

Mesomelic dwarfism, Reinhardt-Pfeiffer type

Reinhardt-Pfeiffer mesomelic dysplasia · Reinhardt-Pfeiffer syndrome

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

Nodular non-suppurative panniculitis

Idiopathic lobular panniculitis · Idiopathic nodular panniculitis

PASS syndrome

Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome

PFAPA syndrome

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

Pfeiffer syndrome

ACS5 · Acrocephalosyndactyly type 5

Pfeiffer syndrome type 2

Pfeiffer syndrome type 3

Pfeiffer-Palm-Teller syndrome

PHAVER syndrome

Powell-Chandra-Saal syndrome

Potocki-Shaffer syndrome

11p11.2 deletion · Proximal 11p deletion syndrome

Preaxial polydactyly-colobomata-intellectual disability syndrome

Pfeiffer-Mayer syndrome