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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2022.