Synonyms: Seaver-Cassidy syndrome
Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism telecanthus downslanting palpebral fissures ptosis malar hypoplasia broad nasal bridge thin upper lip smooth philtrum and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus hyper-extensible joints etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism and the mother had mild intellectual deficit.
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://www.orphadata.org. Data version June 2026
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Facial dysmorphism-shawl scrotum-joint laxity syndrome?
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PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
ReNU2 United
ReNU2 United fosters collaboration, supports families, raises awareness, and advances research into RNU2-2-related neurodevelopmental disease.
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