Preferred Label : Carpenter-Waziri syndrome;
ICD-11 definition : Carpenter-Waziri syndrome is an X-linked intelelctual deficit (XLMR) syndrome belonging
to the group of conditions characterised by the association of intellectual deficit
with hypotonic facies. In the affected males the syndrome was characterised by a coarse
facial appearance, brachydactyly with widening of the distal phalanges, short stature
and moderate intellectual deficit.;
Origin ID : 2059967399;
Automatic exact mappings (from CISMeF team)
Carpenter-Waziri syndrome is an X-linked intelelctual deficit (XLMR) syndrome belonging
to the group of conditions characterised by the association of intellectual deficit
with hypotonic facies. In the affected males the syndrome was characterised by a coarse
facial appearance, brachydactyly with widening of the distal phalanges, short stature
and moderate intellectual deficit.
