Brain malformation-congenital heart disease-postaxial polydactyly syndrome

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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: // Data version September 2023.

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