Genitopatellar syndrome

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Genitopatellar syndrome

Synonyms: Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Genitopatellar syndrome?

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