Rare Disease Library

Bruck syndrome

Osteogenesis imperfecta-congenital joint contractures syndrome

Brugada syndrome

Ventricular fibrillation, Brugada type

C syndrome

OTCS · Opitz C trigonocephaly

CACH syndrome

Childhood ataxia with diffuse central nervous system hypomyelination · Leukoencephalopathy with vanishing white matter

CAMFAK syndrome

CAMAK syndrome · Cataract-microcephaly-arthrogryposis-kyphosis syndrome

Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome

Pericarditis-arthropathy-camptodactyly syndrome · Arthropathy-camptodactyly syndrome

Cancer-associated retinopathy

CAR syndrome · Paraneoplastic retinopathy

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

Cardiofaciocutaneous syndrome

CFC syndrome

Cardiospondylocarpofacial syndrome

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

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

CHAND syndrome

Baughman syndrome · CHANDS

Chronic intestinal pseudoobstruction syndrome

CIPO · CIP syndrome

CK syndrome

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

CNTNAP2-related developmental and epileptic encephalopathy

CDFE syndrome · CDFES

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

Bassoe syndrome

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

SIFD syndrome

Corneodermatoosseous syndrome

CDO syndrome · Stern-Lubinsky-Durrie syndrome

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

CPE-related Prader-Willi-like syndrome

BDV syndrome · Blakemore-Durmaz-Vasileiou syndrome

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS syndrome

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Berant syndrome · Capra-DeMarco syndrome

Curly hair-acral keratoderma-caries syndrome

CHAC syndrome · CHACS

De Barsy syndrome

Cutis laxa-corneal clouding-intellectual disability syndrome · Progeroid syndrome, De Barsy type

Deafness with labyrinthine aplasia, microtia, and microdontia

Hearing loss with labyrinthine aplasia, microtia, and microdontia · LAMM syndrome

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Digitorenocerebral syndrome

DRC syndrome · Eronen-Somer-Gustafsson syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

DOORS syndrome

Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Autosomal recessive deafness-onychodystrophy syndrome

Double uterus-hemivagina-renal agenesis syndrome

Double uterus and obstructed hemivagina syndrome · OHVIRA syndrome

EAST syndrome

Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome · SeSAME syndrome

Ectodermal dysplasia-skin fragility syndrome

McGrath syndrome

Ectrodactyly-cleft palate syndrome

ECP syndrome

EEC syndrome

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

EEM syndrome

Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

Endocrine-cerebro-osteodysplasia syndrome

ECO syndrome

Endosteal hyperostosis, Worth type

Autosomal dominant osteosclerosis, Worth type · Worth syndrome

Erythrokeratodermia-cardiomyopathy syndrome

EKC syndrome

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Fragile X syndrome

FRAXA syndrome · FXS

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome

Gorlin-Chaudhry-Moss syndrome

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome