Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

10 matching diseasesClear search ×

Cardiocranial syndrome, Pfeiffer type

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

ORPHA:2872

Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome

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

ORPHA:3224

Mesomelic dwarfism, Reinhardt-Pfeiffer type

Reinhardt-Pfeiffer mesomelic dysplasia · Reinhardt-Pfeiffer syndrome

ORPHA:2634

Nodular non-suppurative panniculitis

Idiopathic lobular panniculitis · Idiopathic nodular panniculitis

ORPHA:33577

Pfeiffer syndrome

ACS5 · Acrocephalosyndactyly type 5

ORPHA:710

Pfeiffer syndrome type 1

Classic Pfeiffer syndrome

ORPHA:93258

Pfeiffer syndrome type 2

ORPHA:93259

Pfeiffer syndrome type 3

ORPHA:93260

Pfeiffer-Palm-Teller syndrome

ORPHA:2871

Preaxial polydactyly-colobomata-intellectual disability syndrome

Pfeiffer-Mayer syndrome

ORPHA:2921