Rare Disease Library

Idiopathic catatonia

Isolated catatonia · Isolated catatonic syndrome

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

Camptodactyly-tall stature-scoliosis-hearing loss syndrome

Camptodactyly-tall stature-scoliosis-deafness syndrome · CATSHL syndrome

Cancer-associated retinopathy

CAR syndrome · Paraneoplastic retinopathy

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

Cat-eye syndrome

CES

Catel-Manzke syndrome

Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome · Index finger anomaly-Pierre Robin syndrome

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

CANVAS · Cerebellar ataxia with bilateral vestibulopathy syndrome

Chronic atrial and intestinal dysrhythmia syndrome

CAID syndrome · Chronic atrial dysrhythmia-intestinal motility disorder

Congenital muscular dystrophy-cataract-intellectual disability syndrome

INPP5K-related syndrome

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS syndrome

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

RAC3-related syndrome

Familial isolated café-au-lait macules

Familial isolated CALSs · Multiple isolated café-au-lait spots

Frontorhiny

Frontonasal dysplasia type 1 · ALX3-related frontonasal dysplasia

Isolated childhood apraxia of speech

Isolated developmental verbal dyspraxia · Pure childhood apraxia of speech

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

Isolated Klippel-Feil syndrome

Congenital cervical vertebral fusion · Congenital fused cervical segments

Isolated microphthalmia-anophthalmia-coloboma

Isolated anophthalmia-microphthalmia syndrome

IVIC syndrome

Oculo-oto-radial syndrome · Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

Myotonic syndrome

OBSOLETE: Isolated cloverleaf skull syndrome

Rauch-Steindl syndrome

NSD2-related syndrome

Schwartz-Jampel syndrome

Aberfeld syndrome · Burton skeletal dysplasia