Rare Disease Library

Chondrodysplasia punctata, Toriello type

Toriello-Higgins-Miller syndrome

Acromelic frontonasal dysplasia

Acromelic frontonasal dysostosis · AFND

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

Kapur-Toriello syndrome

Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome

Miller Fisher syndrome

Cranial variant of GBS · Cranial variant of Guillain-Barré syndrome

Miller-Dieker syndrome

Lissencephaly due to 17p13.3 deletion · Monosomy 17p13.3

Mills syndrome

Oculoectodermal syndrome

Toriello Lacassie Droste syndrome · Aplasia cutis congenita-epibulbar dermoids syndrome

Postaxial acrofacial dysostosis

Miller syndrome · POADS

Say-Barber-Miller syndrome

Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome

Toriello-Carey syndrome

Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome