Rare Disease Library

Absent tibia-polydactyly-arachnoid cyst syndrome

Holmes-Collins syndrome

3-methylglutaconic aciduria type 3

Autosomal recessive optic atrophy plus syndrome · Autosomal recessive optic atrophy type 3

Acrocardiofacial syndrome

ACFS · CCGE syndrome

Antiphospholipid syndrome

Classic antiphospholipid syndrome · APLS

Autoimmune interstitial lung disease-arthritis syndrome

COPA syndrome

Autoimmune polyendocrinopathy type 1

APECED syndrome · APS type 1

Autosomal recessive Robinow syndrome

COVESDEM syndrome · Costovertebral segmentation defect-mesomelia syndrome

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

Balint syndrome

Balint-Holmes syndrome · Optic ataxia-gaze apraxia-simultanagnosia syndrome

C syndrome

OTCS · Opitz C trigonocephaly

CACH syndrome

Childhood ataxia with diffuse central nervous system hypomyelination · Leukoencephalopathy with vanishing white matter

Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome

Pericarditis-arthropathy-camptodactyly syndrome · Arthropathy-camptodactyly syndrome

Cancer-associated retinopathy

CAR syndrome · Paraneoplastic retinopathy

Cardiofaciocutaneous syndrome

CFC 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-hypogonadism syndrome

Gordon-Holmes syndrome · Luteinizing hormone-releasing hormone deficiency with ataxia

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 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

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

Cockayne syndrome

CODAS syndrome

Cerebrooculodentoauriculoskeletal syndrome

COFS syndrome

Cerebrooculofacioskeletal syndrome · Pena-Shokeir syndrome type 2

Cogan syndrome

Cohen syndrome

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

COMMAD syndrome

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Cooks syndrome

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

Corneodermatoosseous syndrome

CDO syndrome · Stern-Lubinsky-Durrie syndrome

Costello syndrome

FCS syndrome · Faciocutaneoskeletal syndrome

Cowden syndrome

Cowden disease · Multiple hamartoma syndrome

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS syndrome

Curly hair-acral keratoderma-caries syndrome

CHAC syndrome · CHACS

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Dislocation of the hip-dysmorphism syndrome

Collins-Pope syndrome

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Double uterus-hemivagina-renal agenesis syndrome

Double uterus and obstructed hemivagina syndrome · OHVIRA syndrome

Epidermolysis bullosa simplex with anodontia/hypodontia

Kallin syndrome · EBS with anodontia/hypodontia

Glossopalatine ankylosis

Cosack syndrome

H syndrome

Hallux varus-preaxial polysyndactyly syndrome

Kleiner-Holmes syndrome

HARP syndrome

Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome

HEC syndrome

Hydrocephalus-endocardial fibroelastosis-cataract syndrome