Synonyms: Goossens-Devriendt syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation multiple congenital malformations (such as brain malformations including ectopic neuropituitary gland hypoplastic adenopituitary and hypoplastic cerebellar vermis cardiac and renal anomalies and postaxial polydactyly) abnormal hair structure with temporal balding and dysmorphic facial features with hypoplastic nasal bridge anteverted nostrils dysplastic ears long and smooth philtrum narrow upper lip and prominent asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported.
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 2024
Newly diagnosed with
Brain malformation-congenital heart disease-postaxial polydactyly 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
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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
Project CASK
VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. VALUES Collaboration. Transparency. Urgency.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Don't see your organization here. Let us know here.
Clinical Trials
For a list of clinical trials in this disease area, please click here.