Rare Disease Library

Frey syndrome

Baillarger syndrome · Auriculotemporal syndrome

Acropectoral syndrome

ACRP syndrome · Syndactyly-preaxial polydactyly-sternal deformity syndrome

Auriculocondylar syndrome

Question mark ear syndrome

Autism spectrum disorder due to AUTS2 deficiency

ASD due to AUTS2 deficiency · AUTS2 syndrome

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome · TEBC syndrome

Coxoauricular syndrome

Lacrimoauriculodentodigital syndrome

LADD syndrome · LARD syndrome

LUMBAR syndrome

PELVIS syndrome · Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome

Oculoauriculofrontonasal syndrome

OAFNS

TEMPI syndrome

Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome

Temple syndrome

Temtamy syndrome

Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome · Temtamy-Shalash syndrome