Rare Disease Library

Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome

CIMDAG syndrome

CHAND syndrome

Baughman syndrome · CHANDS

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

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

Cholestasis-lymphedema syndrome

Aagenaes syndrome

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

CLOVES syndrome

Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome · Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome

CNTNAP2-related developmental and epileptic encephalopathy

CDFE syndrome · CDFES

Coats plus syndrome

CRMCC · Cerebroretinal microangiopathy with calcifications and cysts

Cockayne syndrome

CODAS syndrome

Cerebrooculodentoauriculoskeletal syndrome

Coffin-Siris syndrome

CSS

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

Cogan syndrome

Cogan-Reese syndrome

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

CHOPS syndrome

Cohen syndrome

Cohen-Gibson syndrome

EED-related overgrowth syndrome

Cole-Carpenter syndrome

Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome

Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome

COMMAD syndrome

Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome

CD55 deficiency · CHAPLE syndrome

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

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

SIFD syndrome

Constitutional mismatch repair deficiency syndrome

CMMR-D syndrome

Cooks syndrome

Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges syndrome · ODP

Cooper-Jabs syndrome

Aural atresia-multiple congenital anomalies-intellectual disability syndrome

Corneodermatoosseous syndrome

CDO syndrome · Stern-Lubinsky-Durrie syndrome

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

Graham-Cox syndrome

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

Cowden syndrome

Cowden disease · Multiple hamartoma syndrome

CPE-related Prader-Willi-like syndrome

BDV syndrome · Blakemore-Durmaz-Vasileiou syndrome

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS syndrome

CREST syndrome

Calcinosis-Raynaud phenomenon-esophageal involvement-sclerodactyly-telangiectasia syndrome

Crouzon syndrome

Crouzon craniofacial dysostosis

Curly hair-acral keratoderma-caries syndrome

CHAC syndrome · CHACS

Deafness-opticoacoustic nerve atrophy-dementia syndrome

Jensen syndrome · hearing loss-opticoacoustic nerve atrophy-dementia syndrome

Developmental and epileptic encephalopathy with spike-wave activation in sleep

CSWS · CSWSS syndrome

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Digitorenocerebral syndrome

DRC syndrome · Eronen-Somer-Gustafsson syndrome

Dislocation of the hip-dysmorphism syndrome

Collins-Pope syndrome