Facial dysmorphism-shawl scrotum-joint laxity syndrome

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Facial dysmorphism-shawl scrotum-joint laxity syndrome

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 February 2024

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