Grubben-de Cock-Borghgraef 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.

Also known as: developmental delay-hypotonia-extremities hypertrophy syndrome, Grubben de Cock Borghgraef syndrome, developmental delay - hypotonia - extremities hypertrophy, growth retardation, small and puffy hands and feet, and eczema, severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin

0 clinical trials for this condition and its sub-types, 0 tagged with Grubben-de Cock-Borghgraef syndrome itself.