/Grubben-de Cock-Borghgraef syndrome

Grubben-de Cock-Borghgraef syndrome

Rare Disease

MONDO:0009313

Also Known As

developmental delay-hypotonia-extremities hypertrophy syndromeGrubben de Cock Borghgraef syndromedevelopmental delay - hypotonia - extremities hypertrophygrowth retardation, small and puffy hands and feet, and eczemasevere growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin

Definition

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.