Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency. Disease data Classification Malformation syndrome Synonyms Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome Brak rzepki - hipoplazja moszny - wady nerek - dysmorfia twarzy - niepełnosprawność intelektualna ORPHA code 85201 OMIM code 606170 ICD10 code Q87.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl