Rare Disease Library

Systemic capillary leak syndrome

Capillary hyperpermeability syndrome · Capillary leak syndrome

Acrocardiofacial syndrome

ACFS · CCGE syndrome

Aggressive primary cutaneous T-cell lymphoma

CTCL · Mycosis fungoides

Autoimmune interstitial lung disease-arthritis syndrome

COPA syndrome

Ballard syndrome

Pitt-Williams brachydactyly · Brachydactyly, combined B and E types

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

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

CAMOS syndrome

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

Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome

Pericarditis-arthropathy-camptodactyly syndrome · Arthropathy-camptodactyly syndrome

Camptodactyly-tall stature-scoliosis-hearing loss syndrome

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

Cancer-associated retinopathy

CAR syndrome · Paraneoplastic retinopathy

CANDLE syndrome

Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome

CANOMAD syndrome

Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome · Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies

Cantú syndrome

Hypertrichotic osteochondrodysplasia · Congenital hypertrichosis-coarse facial features spectrum

Cardiofaciocutaneous syndrome

CFC syndrome

Carney complex

Carney syndrome · Myxoma-spotty pigmentation-endocrine overactivity syndrome

Caroli syndrome

Carvajal syndrome

Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome · Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

Cat-eye syndrome

CES

Cataract-hypertrichosis-intellectual disability syndrome

CAHMR syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Cenani-Lenz syndrome

Cenani syndactyly · Cenani-Lenz syndactyly

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

CANVAS · Cerebellar ataxia with bilateral vestibulopathy syndrome

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome · CAPOS syndrome

Char syndrome

Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

CHIME syndrome

Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome · Congenital disorder of glycosylation due to PIGL deficiency

Chronic atrial and intestinal dysrhythmia syndrome

CAID syndrome · Chronic atrial dysrhythmia-intestinal motility disorder

Chronic Epstein-Barr virus infection syndrome

Chronic EBV infection syndrome · CAEBV syndrome

Chronic intestinal pseudoobstruction syndrome

CIPO · CIP syndrome

CK syndrome

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

Cleft palate-lateral synechia syndrome

CPLS syndrome

CNTNAP2-related developmental and epileptic encephalopathy

CDFE syndrome · CDFES

Coffin-Lowry syndrome

CLS

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

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

Curly hair-acral keratoderma-caries syndrome

CHAC syndrome · CHACS

Deafness with labyrinthine aplasia, microtia, and microdontia

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

Dysequilibrium syndrome

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

Focal stiff limb syndrome

Focal stiff-person syndrome · Stiff leg syndrome

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Hereditary acrokeratotic poikiloderma

Weary syndrome

Indolent primary cutaneous T-cell lymphoma

CTCL · Mycosis fungoides

Isolated congenital onychodysplasia

COIF · COIF syndrome

Junctional epidermolysis bullosa with pyloric atresia

Carmi syndrome · JEB-PA