Thank you for visiting the RARE List. We recognize how critical accurate information is, and our team is working diligently to bring you a new, complete and accurate RARE List in the coming months. We apologize for this inconvenience. Should you need anything in the meantime, please contact the RARE Concierge Patient Services team.

AREDYLD syndrome


A rare genetic disease characterized by lipoatrophic diabetes mild craniofacial dysmorphism (such as pronounced antitragal incisura and mandibular prognathism) ectodermal dysplasia (generalized hypotrichosis and dental and nail abnormalities) hypoplasia or aplasia of the breasts and urogenital/renal anomalies. Additional reported manifestations include skeletal abnormalities and hepatosplenomegaly.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2022.

Connect. Empower. Inspire.