Rare Disease Library

Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome

Faulk-Epstein-Jones syndrome

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

AD-HIES due to STAT3 deficiency · Autosomal dominant HIES due to STAT3 deficiency

Curry-Jones syndrome

Corpus callosum agenesis-polysyndactyly syndrome

Epstein syndrome

Alport syndrome with macrothrombocytopenia

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

Friedman-Goodman syndrome · FACES syndrome

Gingival fibromatosis-progressive deafness syndrome

Jones syndrome · Gingival fibromatosis-progressive hearing loss syndrome

Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome

Culler-Jones syndrome