Rare Disease Library

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

Berant syndrome · Capra-DeMarco syndrome

2q13 microdeletion syndrome

del2q13 syndrome

5q22 microdeletion syndrome

Monosomy 5q22 syndrome · Del(5)(q22) syndrome

Acrocardiofacial syndrome

ACFS · CCGE syndrome

Acropectorovertebral dysplasia

F syndrome

Arthrogryposis-renal dysfunction-cholestasis syndrome

ARC syndrome

Autoimmune interstitial lung disease-arthritis syndrome

COPA syndrome

Autosomal dominant deafness-onychodystrophy syndrome

DDOD syndrome · Autosomal dominant hearing loss-onychodystrophy syndrome

Autosomal recessive Robinow syndrome

COVESDEM syndrome · Costovertebral segmentation defect-mesomelia 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

Cardiofaciocutaneous syndrome

CFC 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

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

CLAPO syndrome

Cleft palate-lateral synechia syndrome

CPLS syndrome

CNTNAP2-related developmental and epileptic encephalopathy

CDFE syndrome · CDFES

CODAS syndrome

Cerebrooculodentoauriculoskeletal syndrome

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

Cogan syndrome

Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome

CHOPS syndrome

Cohen syndrome