Synonyms: Acrorenal defect-ectodermal dysplasia-diabetes 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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
For a list of clinical trials in this disease area, please click here.