FG syndrome type 1
Synonyms: Opitz-Kaveggia syndrome
A rare X-linked syndromic intellectual disability characterized by developmental delay and intellectual disability early hypotonia constipation feeding problems imperforate anus characteristic behavior (affable eager to please) and dysmorphic craniofacial features (such as relative macrocephaly prominent forehead with frontal hair upsweep hypertelorism downslanting palpebral fissures and open mouth). Additional manifestations are partial agenesis of the corpus callosum sensorineural hearing loss joint laxity cardiac anomalies and abnormalities of the fingers and toes among others.
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
FG syndrome type 1?
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
Oklahoma Rare
Oklahoma Rare is a collaborative community started by 2 parents of children diagnosed with rare diseases (both experienced advocates with history of working in the developmental disability and rare disease communities) created to share resources, advocacy opportunities and connection within the Oklahoma Rare Disease community.
Oklahoma Rare
Oklahoma Rare is a collaborative community started by 2 parents of children diagnosed with rare diseases (both experienced advocates with history of working in the developmental disability and rare disease communities) created to share resources, advocacy opportunities and connection within the Oklahoma Rare Disease community.
DDX3X Foundation
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 Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
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.