Preferred Label : Genito-patellar syndrome;
ICD-11 definition : Genitopatellar syndrome is characterized by the association of absent patellae, genital
anomalies, dysmorphic features (coarse face, large nose, microcephaly), renal anomalies
(multicystic kidneys or hydronephrosis), and intellectual deficit.;
Origin ID : 376039493;
Automatic exact mappings (from CISMeF team)
Genitopatellar syndrome is characterized by the association of absent patellae, genital
anomalies, dysmorphic features (coarse face, large nose, microcephaly), renal anomalies
(multicystic kidneys or hydronephrosis), and intellectual deficit.