Brain malformation-congenital heart disease-postaxial polydactyly syndrome
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 April 2024
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Brain malformation-congenital heart disease-postaxial polydactyly syndrome?
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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
To fund research for treatment and/or a cure for CASK Gene Disorder
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
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