Rare Disease Library

Gómez-López-Hernández syndrome

Cerebellotrigeminal-dermal dysplasia syndrome · Craniosynostosis-alopecia-brain defect syndrome

AREDYLD syndrome

Acrorenal defect-ectodermal dysplasia-diabetes syndrome

Arthrogryposis-ectodermal dysplasia syndrome

Stoll-Alembik-Finck syndrome

Cerebellar ataxia-ectodermal dysplasia syndrome

Cerebellar hypoplasia-tapetoretinal degeneration syndrome

Cerebellar-facial-dental syndrome

Cerebellofaciodental syndrome

Cleft lip/palate-ectodermal dysplasia syndrome

CLPED1 · Cleft lip/palate-syndactyly-pili torti syndrome

Ectodermal dysplasia syndrome

Ectodermal dysplasia

Ectodermal dysplasia-blindness syndrome

Ectodermal dysplasia-sensorineural deafness syndrome

Ectodermal dysplasia-sensorineural hearing loss syndrome

Ectodermal dysplasia-skin fragility syndrome

McGrath syndrome

Ghosal hematodiaphyseal dysplasia

Diaphyseal dysplasia-anemia syndrome · Ghosal syndrome

Joubert syndrome with oculorenal defect

Arima syndrome · CORS

Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Ectodermal dysplasia-short stature syndrome · Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

Odonto-onycho-hypohidrotic dysplasia-midline scalp defects syndrome

Ectodermal dysplasia-adrenal cyst syndrome · Tuffli-Laxova syndrome

Rapp-Hodgkin syndrome

Ectodermal dysplasia syndrome, Rapp-Hodgkin type · Ectodermal dysplasia, Rapp-Hodgkin type

Saldino-Mainzer syndrome

Conorenal syndrome · Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome

Senior-Loken syndrome

Nephronophthisis with retinal dystrophy · Renal dysplasia-retinal aplasia syndrome

Trichodysplasia-xeroderma syndrome

Ulbright-Hodes syndrome

Renal dysplasia-limb defects syndrome · Renal dysplasia-mesomelia-radiohumeral fusion syndrome