Preferred Label : radioulnar synostosis, unilateral, with developmental retardation and hypotonia;
Définition CISMeF : 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).;
Origin ID : C564856;
UMLS CUI : C1849470;
Currated CISMeF NLP mapping
- MeSH term(s) associated for indexing
- Record concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
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).
