Rare Disease Library

Choreoacanthocytosis

ChAc · Chorea-acanthocytosis

Autosomal recessive spondylocostal dysostosis

Jarcho-Levin syndrome

Bohring-Opitz syndrome

BOS syndrome · Bohring syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Carney complex

Carney syndrome · Myxoma-spotty pigmentation-endocrine overactivity syndrome

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

Chudley-Lowry-Hoar syndrome

Chudley-Lowry syndrome

CK syndrome

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

Congenital central hypoventilation syndrome

CCHS · Ondine syndrome

Corpus callosum agenesis-abnormal genitalia syndrome

Proud syndrome · ACC-abnormal genitalia syndrome

CREST syndrome

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

Crisponi syndrome

Hajdu-Cheney syndrome

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

Kleine-Levin syndrome

Kumar-Levick syndrome

Nail dysplasia-camptodactyly-brachydactyly type B syndrome

L1 syndrome

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

Lateral meningocele syndrome

Lehman syndrome

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

Lelis syndrome

Ectodermal dysplasia-acanthosis nigricans syndrome

Monosomy 5p syndrome

Cri du chat syndrome · Deletion 5p

Oculocerebral hypopigmentation syndrome, Cross type

Cross syndrome

Oley syndrome

Congenital hypotrichosis-milia syndrome

Osteosclerotic bone dysplasia

Raine syndrome

Ravine syndrome

Progressive encephalopathy with severe infantile anorexia · Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome