radioulnar synostosis-developmental delay-hypotonia syndrome
Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0005287
developmental disability
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0017985
congenital radioulnar synostosis
is_a
MONDO:0019054
congenital limb malformation
is_a
Der Kaloustian-McIntosh-Silver syndrome
exact
radioulnar synostosis with developmental delay and hypotonia syndrome
exact
radioulnar synostosis, unilateral, with developmental retardation and hypotonia
related
unilateral radio-ulnar synostosis, generalised hypotonia, developintellectual disability, and a characteristic facial appearance
related
unilateral radio-ulnar synostosis, generalised hypotonia, developmental retardation, and a characteristic facial appearance
related
unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance
related
unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance
related