Synonyms: Nasodigitoacoustic syndrome
A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism broad and high nasal bridge depressed nasal ridge short columella underdeveloped maxilla and prominent cupid-bow upper lip vermillion) mild to severe congenital sensorineural hearing loss and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis voice hoarseness and renal agenesis.
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 September 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.
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
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.
For a list of clinical trials in this disease area, please click here.