Rare Disease Library

Nail-patella syndrome

Onychoosteodysplasia · Turner-Kieser syndrome

22q11.2 deletion syndrome

22q11DS · CATCH 22

3C syndrome

Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome

3M syndrome

3-M syndrome · Yakut short stature syndrome

46,XY complete gonadal dysgenesis

46,XY CGD · 46,XY pure gonadal dysgenesis

Acropectorovertebral dysplasia

F syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Ascher syndrome

Blepharochalasis-double lip syndrome

Autosomal dominant spastic paraplegia type 17

SPG17 · Silver syndrome

Autosomal recessive spastic paraplegia type 20

Childhood-onset spastic paraparesis-distal muscle wasting syndrome · SPG20

Axenfeld-Rieger syndrome

Axenfeld syndrome · Rieger syndrome

BRESEK syndrome

BRESHECK syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cardiospondylocarpofacial syndrome

Forney-Robinson-Pascoe syndrome · Mitral regurgitation-deafness-skeletal anomalies syndrome

Carney complex

Carney syndrome · Myxoma-spotty pigmentation-endocrine overactivity syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

CK syndrome

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

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome · TEBC syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Dysequilibrium syndrome

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

Epidermolysis bullosa simplex with anodontia/hypodontia

Kallin syndrome · EBS with anodontia/hypodontia

Familial cylindromatosis

Turban tumor syndrome

Fechtner syndrome

Alport syndrome with leukocyte inclusions and macrothrombocytopenia

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Fowler urethral sphincter dysfunction syndrome

Fowler-Christmas-Chapple syndrome · Fowler syndrome

Frank-Ter Haar syndrome

Ter Haar syndrome

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

Gardner syndrome

H syndrome

Hallux varus-preaxial polysyndactyly syndrome

Kleiner-Holmes syndrome

Heiner syndrome

Cow's milk-induced pulmonary hypersensitivity syndrome

Hurler syndrome

Hurler disease · MPS1H

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome

Beck-Fahrner syndrome · TET3-related Beck-Fahrner syndrome

Kabuki syndrome

Kabuki make-up syndrome · Niikawa-Kuroki syndrome

KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome

KAT6A syndrome · Arboleda-Tham syndrome

KBG syndrome

Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome · ANKRD11-related disorder

Kenny-Caffey syndrome

Kenny syndrome

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

KLICK syndrome

Keutel syndrome

Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

Kindler epidermolysis bullosa

Kindler syndrome · Poikiloderma of Kindler

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

May-Thurner syndrome

MTS · Cockett syndrome

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome