Rare Disease Library

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

Charlie M 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

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

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

Colobomatous macrophthalmia-microcornea syndrome

MACOM 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

Corneodermatoosseous syndrome

CDO syndrome · Stern-Lubinsky-Durrie syndrome

Cowden syndrome

Cowden disease · Multiple hamartoma 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

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

Mehes syndrome

Developmental and epileptic encephalopathy with spike-wave activation in sleep

CSWS · CSWSS syndrome

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

Distal deletion 3p syndrome

3p- syndrome · Distal monosomy 3p

Dysequilibrium syndrome

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

Ectrodactyly-cleft palate syndrome

ECP syndrome

EEC syndrome

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

Erythrokeratodermia-cardiomyopathy syndrome

EKC syndrome

Feingold syndrome

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

Fibrous dysplasia/McCune-Albright syndrome

Fibrous dysplasia/McCune-Albright spectrum · FD/MAS spectrum

Glossopalatine ankylosis

Cosack syndrome

GMS syndrome

Goniodysgenesis-intellectual disability-short stature syndrome

Gorlin-Chaudhry-Moss syndrome

Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome · Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome

H syndrome

Hajdu-Cheney syndrome

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

Hemiconvulsion-hemiplegia-epilepsy syndrome

HHE · HHE syndrome

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

HHH syndrome · ORNT1 deficiency