Rare Disease Library

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

CHOPS syndrome

Cohen syndrome

Congenital contractural arachnodactyly

Beals syndrome · Beals-Hecht syndrome

Congenital muscular dystrophy-cataract-intellectual disability syndrome

INPP5K-related syndrome

Cooks syndrome

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

Corneodermatoosseous syndrome

CDO syndrome · Stern-Lubinsky-Durrie syndrome

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS syndrome

CREST syndrome

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

Curly hair-acral keratoderma-caries syndrome

CHAC syndrome · CHACS

Developmental and epileptic encephalopathy with spike-wave activation in sleep

CSWS · CSWSS syndrome

Dysequilibrium syndrome

CAMRQ syndrome · Non-progressive cerebellar ataxia-intellectual disability syndrome

EEC syndrome and related disorders

EEC syndrome and related syndrome · Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

RAC3-related syndrome

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

FILS syndrome

Feingold syndrome

Brunner-Winter syndrome · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum

Fried syndrome

Frontorhiny

Frontonasal dysplasia type 1 · ALX3-related frontonasal dysplasia

H syndrome

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

Hypotonia-speech impairment-severe cognitive delay syndrome

Infantile hypotonia-psychomotor retardation-characteristic facies syndrome · IHPRF syndrome

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

ICF syndrome

Immunodeficiency-centromeric instability-facial dysmorphism syndrome · Immunodeficiency-centromeric instability-facial anomalies syndrome

ICHAD syndrome

Immune dysregulation-craniofacial anomalies-hearing impairment-athelia-developmental delay syndrome

Ichthyosis follicularis-alopecia-photophobia syndrome

IFAP syndrome · Ichthyosis follicularis-atrichia-photophobia syndrome

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

Idiopathic catatonia

Isolated catatonia · Isolated catatonic syndrome

IMAGe syndrome

Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome

Infantile convulsions and choreoathetosis

ICCA syndrome · Paroxysmal kinesigenic dyskinesia and infantile convulsions

Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome

ILNEB syndrome · Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome

Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome

ARCN1-related syndrome

IRIDA syndrome

Iron-refractory iron deficiency anemia

Iridocorneal endothelial syndrome

ICE syndrome

IRVAN syndrome

Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome

Isaacs syndrome

Continuous muscle fiber activity syndrome · Quantal squander syndrome

Isochromosome Y syndrome

Isolated childhood apraxia of speech

Isolated developmental verbal dyspraxia · Pure childhood apraxia of speech

Isolated congenital hepatic fibrosis

Isolated CHF

Isolated congenital onychodysplasia

COIF · COIF syndrome

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

Isolated sternocostoclavicular hyperostosis

Isolated SCCH

Isotretinoin syndrome

Isotretinoin embryopathy · Retinoic acid embryopathy

IVIC syndrome

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

Joubert syndrome with hepatic defect

COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis

Junctional epidermolysis bullosa with pyloric atresia

Carmi syndrome · JEB-PA

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome