Facial dysmorphism-shawl scrotum-joint laxity syndrome

Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterized 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.

Also known as: Seaver-Cassidy syndrome, Seaver Cassidy syndrome, facial dysmorphism shawl scrotum joint laxity, hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low-set ears associated with joint and scrotal anomalies

0 clinical trials for this condition and its sub-types, 0 tagged with Facial dysmorphism-shawl scrotum-joint laxity syndrome itself.