Rare Disease Library

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

22q11.2 deletion syndrome

22q11DS · CATCH 22

Aarskog-Scott syndrome

Aarskog syndrome · Faciodigitogenital syndrome

Acrocardiofacial syndrome

ACFS · CCGE syndrome

Acropectorovertebral dysplasia

F syndrome

Adrenogenital syndrome

Aicardi syndrome

Agenesis of corpus callosum with chorioretinal abnormality

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

Autoimmune interstitial lung disease-arthritis syndrome

COPA syndrome

Barth syndrome

3-methylglutaconic aciduria type 2 · BTHS

Brachymorphism-onychodysplasia-dysphalangism syndrome

BOD syndrome · Senior syndrome

Branchioskeletogenital syndrome

Elsahy-Waters syndrome · BSG 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

Carcinoid syndrome

Malignant carcinoid syndrome

Cardiac-urogenital syndrome

MYRF-related cardiac urogenital syndrome

Cardiocranial syndrome, Pfeiffer type

Craniosynostosis-congenital heart disease-intellectual disability syndrome · Pfeiffer-Singer-Zschiesche syndrome

Cardiofaciocutaneous syndrome

CFC syndrome

Cardiogenic shock

Cardiospondylocarpofacial syndrome

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

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Carney complex

Carney syndrome · Myxoma-spotty pigmentation-endocrine overactivity syndrome

Caroli syndrome

Carpenter syndrome

ACPS2 · Acrocephalopolysyndactyly type 2

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

Caudal regression syndrome

Caudal dysgenesis syndrome · Caudal dysplasia

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

CHAND syndrome

Baughman syndrome · CHANDS

Char syndrome

Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

CHILD syndrome

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects · CHILD nevus

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

CINCA syndrome

IOMID syndrome · Infantile-onset multisystem inflammatory disease

CK syndrome

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