Genitopatellar syndrome

Orpha code: 85201OMIM code: 606170

Definicja

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
Klasyfikacja

Malformation syndrome

Synonimy
Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome
Brak rzepki - hipoplazja moszny - wady nerek - dysmorfia twarzy - niepełnosprawność intelektualna
Kod ORPHA
85201
Kod OMIM
606170
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl