Rare Disease Library

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

Antiphospholipid syndrome

Classic antiphospholipid syndrome · APLS

Apert syndrome

ACS1 · Acrocephalosyndactyly type 1

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

AD-HIES due to STAT3 deficiency · Autosomal dominant HIES due to STAT3 deficiency

C syndrome

OTCS · Opitz C trigonocephaly

Cancer-associated retinopathy

CAR syndrome · Paraneoplastic retinopathy

Cardiofaciocutaneous syndrome

CFC syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Chronic intestinal pseudoobstruction syndrome

CIPO · CIP syndrome

CK syndrome

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

CLAPO syndrome

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

Classic progressive supranuclear palsy syndrome

Steele-Richardson-Olszewski disease · Richardson syndrome

Classic stiff person syndrome

Classic SPS · Classic stiff man syndrome

Classical Ehlers-Danlos syndrome

Classical EDS · cEDS

CLOVES syndrome

Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome · Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Corneodermatoosseous syndrome

CDO syndrome · Stern-Lubinsky-Durrie syndrome

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS syndrome

Curry-Jones syndrome

Corpus callosum agenesis-polysyndactyly syndrome

Gingival fibromatosis-progressive deafness syndrome

Jones syndrome · Gingival fibromatosis-progressive hearing loss syndrome

Hypoglossia-hypodactyly syndrome

Aglossia-adactylia syndrome · Hanhart syndrome

JMP syndrome

Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome

Joubert syndrome and related disorders

JSRD

Joubert syndrome with hepatic defect

COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis

Joubert syndrome with Jeune asphyxiating thoracic dystrophy

JBTS with JATD · Joubert syndrome with JATD

Joubert syndrome with ocular defect

JS-O · Joubert syndrome with retinopathy

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

Joubert syndrome with renal defect

JS-R

Keipert syndrome

Nasodigitoacoustic syndrome

Lambert syndrome

Branchial dysplasia-intellectual disability-inguinal hernia syndrome

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

Orofaciodigital syndrome type 6

Joubert syndrome with oral-facial-digital syndrome · OFD6

Pfeiffer syndrome type 1

Classic Pfeiffer syndrome

Primary ciliary dyskinesia, Kartagener type

Dextrocardia-bronchiectasis-sinusitis syndrome · Immotile cilia syndrome, Kartagener type

Roberts syndrome

Pseudothalidomide syndrome · Roberts-SC phocomelia syndrome

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome