Rare Disease Library

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

CODAS syndrome

Cerebrooculodentoauriculoskeletal syndrome

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

Cohen 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

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

Cowden syndrome

Cowden disease · Multiple hamartoma syndrome

Craniosynostosis-anal anomalies-porokeratosis syndrome

CAP syndrome · CDAGS syndrome

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

Braddock-Jones-Superneau syndrome

CREST syndrome

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

Crigler-Najjar syndrome

Bilirubin uridinediphosphate glucuronosyltransferase deficiency · Bilirubin-UGT deficiency

Curly hair-acral keratoderma-caries syndrome

CHAC syndrome · CHACS

Currarino syndrome

Currarino triad

Curry-Jones syndrome

Corpus callosum agenesis-polysyndactyly syndrome

Deafness-enamel hypoplasia-nail defects syndrome

Heimler syndrome · Hearing loss-enamel hypoplasia-nail defects syndrome

Deafness-opticoacoustic nerve atrophy-dementia syndrome

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

Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome

Mehes syndrome

Developmental and epileptic encephalopathy with spike-wave activation in sleep

CSWS · CSWSS syndrome

Diethylstilbestrol syndrome

DES embryofetopathy · DES syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Dysequilibrium syndrome

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

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Fowler urethral sphincter dysfunction syndrome

Fowler-Christmas-Chapple syndrome · Fowler syndrome

Fraser syndrome

Cryptophthalmos-syndactyly syndrome

Gingival fibromatosis-progressive deafness syndrome

Jones syndrome · Gingival fibromatosis-progressive hearing loss syndrome

Glossopalatine ankylosis

Cosack syndrome

H syndrome

Hajdu-Cheney syndrome

Acroosteolysis dominant type · Acroosteolysis with osteoporosis and changes in skull and mandible

Heiner syndrome

Cow's milk-induced pulmonary hypersensitivity syndrome

Hurler syndrome

Hurler disease · MPS1H

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome

CTNNB1-related neurodevelopmental disorder · CTNNB1-NDD

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

MOMES syndrome

Intellectual disability-spasticity-ectrodactyly syndrome

Jancar syndrome