Rare Disease Library

Familial exudative vitreoretinopathy

Criswick-Schepens syndrome · FEVR

Apparent mineralocorticoid excess

11-beta-hydroxysteroid dehydrogenase deficiency type 2 · Ulick syndrome

Ascher syndrome

Blepharochalasis-double lip syndrome

Autoimmune polyendocrinopathy type 2

APS type 2 · APS2

C syndrome

OTCS · Opitz C trigonocephaly

Cataract-nephropathy-encephalopathy syndrome

Crome syndrome

CK syndrome

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

CREST syndrome

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

Crisponi syndrome

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Glossopalatine ankylosis

Cosack syndrome

Hajdu-Cheney syndrome

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

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

KLICK syndrome

L1 syndrome

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

Monosomy 5p syndrome

Cri du chat syndrome · Deletion 5p

Oculocerebral hypopigmentation syndrome, Cross type

Cross syndrome

PENS syndrome

Papular epidermal nevi with skyline basal cell layers syndrome

Scheie syndrome

MPS1S · MPSIS

Schimke immuno-osseous dysplasia

Schimke syndrome · Spondyloepiphyseal dysplasia-nephrotic syndrome

Semicircular canal dehiscence syndrome

SCD syndrome