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 2026
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
Heart of a Giant Foundation
The mission of the HGF is to achieve better health outcomes for heart diseases and related chronic health conditions in our communities and enhance the quality of life through health education, care support, and connection to community resources.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
RareDNA Foundation
Dedicated to improving outcomes for individuals and families affected by rare DNA heart mutations by advancing awareness, access and action. We increase awareness among medical professionals and the public, provide education and resources on diagnosis and treatment, support scientific research, and advocate for faster diagnostic pathways, giving families the knowledge and care they need.
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.