Rare Disease Library

Neutral lipid storage disease with ichthyosis

NLSDI · Dorfman-Chanarin syndrome

46,XX testicular difference of sex development

46,XX testicular DSD · De la Chapelle syndrome

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

BILU syndrome · Hoffman syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Cataract-nephropathy-encephalopathy syndrome

Crome 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

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

CK syndrome

X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome

Cogan syndrome

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

CHOPS syndrome

Combined immunodeficiency with facio-oculo-skeletal anomalies

Roifman-Chitayat syndrome

Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome

CD55 deficiency · CHAPLE syndrome

Constitutional mismatch repair deficiency syndrome

CMMR-D syndrome

Curly hair-acral keratoderma-caries syndrome

CHAC syndrome · CHACS

Currarino syndrome

Currarino triad

Dobrow syndrome

Syngnathia-multiple anomalies syndrome

DOORS syndrome

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

Down syndrome

Trisomy 21

Eosinophilic fasciitis

Diffuse fasciitis with eosinophilia · Shulman syndrome

Epilepsy with myoclonic-atonic seizures

Doose syndrome · EMAS

Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

Char-Douglas-Dungan syndrome

Fibular aplasia-complex brachydactyly syndrome

Du Pan syndrome

German syndrome

Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Hajdu-Cheney syndrome

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

HANAC syndrome

Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome · Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome

Hinman syndrome

HAS · HS

Lateral meningocele syndrome

Lehman syndrome

Marin-Amat syndrome

Monosomy 5p syndrome

Cri du chat syndrome · Deletion 5p

Oculocerebrocutaneous syndrome

Delleman syndrome · Delleman-Oorthuys syndrome

Pelviscapular dysplasia

Cousin syndrome · Familial pelvis-scapular dysplasia

Roifman syndrome

Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome

Sheehan syndrome

Tubulointerstitial nephritis and uveitis syndrome

Dobrin syndrome · TINU syndrome

X-linked skeletal dysplasia-intellectual disability syndrome

Christian syndrome