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"

12 matching diseasesClear search ×

Isolated split hand-split foot malformation

Ectrodactyly · SHFM

ORPHA:2440

Aortic malformation

ORPHA:98718

Cranial malformation

ORPHA:98038

Hemi-myelomeningocele

Open split-cord malformation

ORPHA:645388

OBSOLETE: Split hand or/and split foot malformation

ORPHA:294935

Rare developmental defect during embryogenesis

Malformation syndrome

ORPHA:93890

Rare head and neck malformation

ORPHA:155832

Splenic venous malformation

Splenic cavernous malformation · Splenic slow flow venous malformation

ORPHA:688523

Split cord malformation type I

Diastematomyelia · SCM type I

ORPHA:1671

Split cord malformation, composite type

Split cord malformation type 1.5 · Split cord malformation, mixed type

ORPHA:633076

Split-foot malformation-mesoaxial polydactyly syndrome

SFMMP · Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome

ORPHA:488232

Tibial aplasia-ectrodactyly syndrome

Aplasia of tibia with split-hand/split-foot deformity · SHFLD syndrome

ORPHA:3329