Grubben-de Cock-Borghgraef syndrome

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Synonyms: Developmental delay-hypotonia-extremities hypertrophy syndrome

Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency generalized muscular hypotonia developmental delay (particularly of speech and language) hypotrophy of distal extremities small and puffy hands and feet eczematous skin and dental anomalies (i.e. small widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.

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 June 2024

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