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"

34 matching diseasesClear search ×

Camptodactyly-joint contractures-facial skeletal defects syndrome

Rozin camptodactyly syndrome

ORPHA:1323

Autosomal recessive palmoplantar keratoderma and congenital alopecia

Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia · Cataract-alopecia-sclerodactyly syndrome

ORPHA:1366

CAMFAK syndrome

CAMAK syndrome · Cataract-microcephaly-arthrogryposis-kyphosis syndrome

ORPHA:1317

CAMOS syndrome

Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome · SCAR5

ORPHA:83472

Camptodactyly of fingers

ORPHA:295016

Camptodactyly syndrome, Guadalajara type 1

ORPHA:1327

Camptodactyly syndrome, Guadalajara type 2

ORPHA:1326

Camptodactyly syndrome, Guadalajara type 3

ORPHA:488434

Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome

Pericarditis-arthropathy-camptodactyly syndrome · Arthropathy-camptodactyly syndrome

ORPHA:2848

Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome

Goodman camptodactyly

ORPHA:1321

Camptodactyly-tall stature-scoliosis-hearing loss syndrome

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

ORPHA:85164

Camptodactyly-taurinuria syndrome

Familial streblodactyly with amino-aciduria

ORPHA:1325

Cancer-associated retinopathy

CAR syndrome · Paraneoplastic retinopathy

ORPHA:71505

Carney complex-trismus-pseudocamptodactyly syndrome

Carney complex variant

ORPHA:319340

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS syndrome

ORPHA:85199

Dysequilibrium syndrome

CAMRQ syndrome · Non-progressive cerebellar ataxia-intellectual disability syndrome

ORPHA:1766

Ectrodactyly-cleft palate syndrome

ECP syndrome

ORPHA:1889

Ectrodactyly-polydactyly syndrome

ORPHA:1892

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

ORPHA:2052

Gordon syndrome

Distal arthrogryposis type 3 · Distal arthrogryposis type IIA

ORPHA:376

Hypoglossia-hypodactyly syndrome

Aglossia-adactylia syndrome · Hanhart syndrome

ORPHA:989

Kumar-Levick syndrome

Nail dysplasia-camptodactyly-brachydactyly type B syndrome

ORPHA:2355

Mesomelic dwarfism-cleft palate-camptodactyly syndrome

Reardon-Hall-Slaney syndrome · Mesomelic dysplasia, Reardon type

ORPHA:2631

Non-syndromic syndactyly

ORPHA:90025

Polydactyly-myopia syndrome

Czeizel-Brooser syndrome

ORPHA:2917

Pyknoachondrogenesis

Camera syndrome

ORPHA:3003

Robin sequence-oligodactyly syndrome

Pierre Robin sequence-oligodactyly syndrome

ORPHA:3104

Short rib-polydactyly syndrome

ORPHA:1505

Spondylocamptodactyly syndrome

ORPHA:3180

Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome

Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome · Wahab syndrome

ORPHA:357332

Tel Hashomer camptodactyly syndrome

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

ORPHA:3292

Timothy syndrome

LQT8 · Long QT syndrome type 8

ORPHA:65283

Trismus-pseudocamptodactyly syndrome

Distal arthrogryposis type 7 · Dutch-Kentucky syndrome

ORPHA:3377

Urban-Rogers-Meyer syndrome

Intellectual disability-short stature-hand contractures-genital anomalies syndrome · Prader-Willi habitus-osteopenia-camptodactyly syndrome

ORPHA:3409