Rare Disease Library

Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

Char-Douglas-Dungan syndrome

47,XYY syndrome

Jacobs syndrome · Double Y syndrome

Abruzzo-Erickson syndrome

CHARGE-like syndrome · Cleft palate-coloboma-deafness syndrome

Cancer-associated retinopathy

CAR syndrome · Paraneoplastic retinopathy

Celiac artery compression syndrome

Dunbar syndrome · Median arcuate ligament syndrome

CHAND syndrome

Baughman syndrome · CHANDS

Chandler syndrome

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

CHIME syndrome

Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome · Congenital disorder of glycosylation due to PIGL deficiency

Cogan syndrome

Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome

CD55 deficiency · CHAPLE syndrome

Curly hair-acral keratoderma-caries syndrome

CHAC syndrome · CHACS

DOORS syndrome

Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Autosomal recessive deafness-onychodystrophy syndrome

Down syndrome

Trisomy 21

Familial partial lipodystrophy, Dunnigan type

Dunnigan syndrome · FPLD2

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome

Hereditary persistence of fetal hemoglobin-intellectual disability syndrome

Dias-Logan syndrome

Monosomy 5p syndrome

Cri du chat syndrome · Deletion 5p

Neutral lipid storage disease with ichthyosis

NLSDI · Dorfman-Chanarin syndrome

Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

Thong-Douglas-Ferrante syndrome · Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome

Triple A syndrome

2A syndrome · 3A syndrome