Athabaskan brainstem dysgenesis syndrome
Synonyms: ABSD | Athabascan brainstem dysgenesis syndrome | Navajo brainstem syndrome
A rare genetic neurological disorder characterized by horizontal gaze palsy sensorineural deafness central hypoventilation developmental delay and intellectual disability described in persons of Athabascan American Indian heritage. Swallowing dysfunction vocal cord paralysis facial paresis seizures internal carotid artery and cardiac outflow tract anomalies may be additionally observed. No dysmorphic facial features are associated.
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 http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Athabaskan brainstem dysgenesis syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.