Rare Disease Library

Chudley-Lowry-Hoar syndrome

Chudley-Lowry syndrome

Abruzzo-Erickson syndrome

CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome

Acrocardiofacial syndrome

ACFS · CCGE syndrome

Acropectorovertebral dysplasia

F syndrome

Aggressive primary cutaneous T-cell lymphoma

CTCL · Mycosis fungoides

Ataxia-telangiectasia

Louis-Bar syndrome

Autoimmune interstitial lung disease-arthritis syndrome

COPA syndrome

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

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

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

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

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

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

Chandler syndrome

Char syndrome

Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

CHARGE syndrome

CHARGE association · Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome

Charlie M syndrome

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

Choreoacanthocytosis

ChAc · Chorea-acanthocytosis

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

Chudley-McCullough 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 lip/palate-deafness-sacral lipoma syndrome

Cleft lip/palate-hearing loss-sacral lipoma syndrome · Lowry-Yong syndrome

Cleft palate-lateral synechia syndrome

CPLS syndrome

CNTNAP2-related developmental and epileptic encephalopathy

CDFE syndrome · CDFES

CODAS syndrome

Cerebrooculodentoauriculoskeletal syndrome

Coffin-Lowry syndrome

CLS

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