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"

9 matching diseasesClear search ×

Camptodactyly-tall stature-scoliosis-hearing loss syndrome

Camptodactyly-tall stature-scoliosis-deafness syndrome · CATSHL syndrome

ORPHA:85164

Acrodysplasia scoliosis

Prata-Liberal-Goncalves syndrome · Brachydactyly-scoliosis-carpal fusion syndrome

ORPHA:2956

Blindness-scoliosis-arachnodactyly syndrome

ORPHA:171844

Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome

Pericarditis-arthropathy-camptodactyly syndrome · Arthropathy-camptodactyly syndrome

ORPHA:2848

Camptodactyly-joint contractures-facial skeletal defects syndrome

Rozin camptodactyly syndrome

ORPHA:1323

Camptodactyly-taurinuria syndrome

Familial streblodactyly with amino-aciduria

ORPHA:1325

Cutaneous mastocytosis-deafness-microtia syndrome

Mastocytosis-short stature-hearing loss syndrome · Cutaneous mastocytosis-hearing loss-microtia syndrome

ORPHA:2135

Tall stature-long halluces-multiple extra-epiphyses syndrome

Tall stature-scoliosis-macrodactyly of the halluces syndrome

ORPHA:329191

Tel Hashomer camptodactyly syndrome

Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome

ORPHA:3292