Rare Disease Library

Spondylometaphyseal dysplasia-corneal dystrophy syndrome

SMD-corneal dystrophy syndrome

3-methylglutaconic aciduria type 3

Autosomal recessive optic atrophy plus syndrome · Autosomal recessive optic atrophy type 3

Anonychia-onychodystrophy syndrome

Ataxia-hypogonadism-choroidal dystrophy syndrome

Boucher-Neuhäuser syndrome

Brittle cornea syndrome

Ehlers-Danlos syndrome type 6B

Central discoid corneal dystrophy

Climatic droplet keratopathy

Honey-droplet corneal dystrophy

Cone rod dystrophy-short stature syndrome

Congenital hereditary endothelial dystrophy type II

Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy

Congenital stromal corneal dystrophy

CSCD · Congenital hereditary stromal dystrophy

Corneal dystrophy

Corneal dystrophy-perceptive deafness syndrome

CDPD · Corneal dystrophy with progressive deafness

Cornelia de Lange syndrome

Brachmann-de Lange syndrome

Deafness-onychodystrophy syndrome

Hearing loss-onychodystrophy syndrome

Dermochondrocorneal dystrophy

François syndrome

Fleck corneal dystrophy

FCD · François-Neetens speckled corneal dystrophy

Fuchs endothelial corneal dystrophy

Endoepithelial corneal dystrophy · FECD

Gelatinous drop-like corneal dystrophy

GDCD · Primary familial amyloidosis of the cornea

Genetic corneal dystrophy

Genetic superficial corneal dystrophy

Granular corneal dystrophy type I

Classic GCD · Classic granular corneal dystrophy

Granular corneal dystrophy type II

Avellino corneal dystrophy · GCD2

Grayson-Wilbrandt corneal dystrophy

GWCD

Hemidystonia-hemiatrophy syndrome

HD-HA syndrome

Lattice corneal dystrophy type I

Biber-Haab-Dimmer dystrophy · Classic lattice corneal dystrophy

Leigh syndrome with leukodystrophy

Infantile subacute necrotizing encephalopathy with leukodystrophy · Leigh disease with leukodystrophy

Lisch epithelial corneal dystrophy

Band-shaped and whorled microcystic dystrophy of the corneal epithelium · LECD

Macular corneal dystrophy

Corneal dystrophy Groenouw type II · Fehr corneal dystrophy

Meesmann corneal dystrophy

Juvenile hereditary epithelial dystrophy of Meesmann · MECD

OBSOLETE: Cleft lip-retinopathy syndrome

OBSOLETE: Cleft lip-progressive retinopathy syndrome · OBSOLETE: Ausems-Wittebol Post-Hennekam syndrome

OBSOLETE: Syndromic chorioretinal dystrophy

OBSOLETE: Syndromic inherited retinal disorder

OBSOLETE: Syndromic retinal dystrophy

OBSOLETE: Syndromic rod-cone dystrophy

OBSOLETE: Syndromic retinitis pigmentosa

Oculodental syndrome, Rutherfurd type

Gingival hypertrophy-corneal dystrophy · Rutherfurd syndrome

Posterior amorphous corneal dystrophy

PACD · Posterior amorphous stromal dystrophy

Posterior corneal dystrophy

Posterior polymorphous corneal dystrophy

PPCD · Posterior polymorphous dystrophy

Pre-Descemet corneal dystrophy

PDCD

Progressive cone dystrophy

Cone dystrophy

Reis-Bücklers corneal dystrophy

Corneal dystrophy of Bowman layer type 1 · Granular corneal dystrophy type 3

Schnyder corneal dystrophy

Crystalline stromal dystrophy · Hereditary crystalline stromal dystrophy of Schnyder

Spastic ataxia-corneal dystrophy syndrome

Bedouin spastic ataxia syndrome · Mousa-Al Din-Al Nassar syndrome

Spinocerebellar degeneration-corneal dystrophy syndrome

Der Kaloustian-Jarudi-Khoury syndrome

Spondyloepiphyseal dysplasia, Byers type

Spondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

SMD-CRD

Stromal corneal dystrophy

Subepithelial mucinous corneal dystrophy

SMCD

Superficial corneal dystrophy

Anterior corneal dystrophy